Mutations genotype. Medical search. Frequent questions

Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis. (bmj.com)
Nine new causative mutations and seven previously characterised mutations of the APC gene of patients with familial adenomatous polyposis (FAP) were analysed for any genotype-phenotype correlations. (bmj.com)
We have undertaken mutation detection in families with FHC to investigate genotype-phenotype correlations. (ox.ac.uk)
We conclude that genotype-phenotype correlations in FMC can be confounded by the presence of more than one mutation in the same copy of a disease gene. (ox.ac.uk)
To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for NF1 missense mutations affecting p.Arg1809 and a single amino acid deletion p.Met922del. (bvsalud.org)
Performing a molecular diagnosis enables the patient and their family to receive appropriate genetic counseling, to obtain a better understanding of the patient's prognosis, and to establish correlations between their genotype and phenotype. (ipcares.org)
Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. (medlineplus.gov)

The only clear genotype-phenotype correlation found was between the position of the mutation site and the presence or absence of congenital hypertrophy of the retinal pigment epithelium (CHRPE). (bmj.com)
To identify mutations in COL2A1 and COL11A1 genes and to examine the genotype-phenotype correlation in a cohort of Chinese patients with Stickler syndrome. (molvis.org)
Analysis of the genotype-phenotype correlation showed that the early onset of high myopia with vitreous abnormalities may serve as a key indicator of Stickler syndrome, while the existence of mandibular protrusion in pediatric patients may be an efficient indicator for the absence of mutations in COL2A1 and COL11A1 . (molvis.org)
We propose that, contrary to current practice, a complete screen for variants is required even when a mutation has been identified before a genotype-phenolype correlation is proposed. (ox.ac.uk)
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. (bvsalud.org)
A genotype-phenotype correlation at the NF1 region 844-848 exists and will be valuable in the management and genetic counseling of a significant number of individuals. (bvsalud.org)
Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease. (qxmd.com)
Our molecular and clinical data suggest a genotype-phenotype correlation for each of these mutations. (qxmd.com)
Distribution of the mutations within the GALC gene indicated some genotype-phenotype correlation. (altmetric.com)

Here, we report 162 individuals (129 unrelated probands and 33 affected relatives ) heterozygous for a constitutional missense mutation affecting one of five neighboring NF1 codons -Leu844, Cys845, Ala846, Leu847, and Gly848-located in the cysteine - serine -rich domain (CSRD). (bvsalud.org)
a second family was found to have a combination of a stop mutation and a missense mutation. (eyehospital.nl)
However, in two families with the milder EORD, the LCA5 gene analysis revealed a homozygous splice site mutation in one and a stop mutation in combination with a missense mutation in a second family, suggesting that this milder phenotype is due to residual function of lebercilin and expanding the currently known phenotypic spectrum to include the milder early onset RP. (eyehospital.nl)

Lastly, if only one PCR product exists from the mutant primers, then the patient is homozygous for the mutation. (brighthub.com)
Mutations were under-represented in patients with a homozygous RET c135A/A genotype in association with short-segment phenotype. (uni-luebeck.de)
Here we report two frequent mutations, each of which was found in the homozygous state in multiple patients, and each of which was associated with a subset of clinical phenotype in those patients with that mutation. (qxmd.com)
In this systematic review of case reports, we discuss the clinical features and mutation variants of hereditary dRTA due to homozygous pathogenic variations in the WDR72 gene, which has been recently identified. (ipcares.org)

In 188 probands with the clinical diagnosis of Stickler syndrome, the COL2A1 gene was analyzed by either a mutation scanning technique or bidirectional fluorescent DNA sequencing. (nih.gov)
The HIV therapy guidelines recommend genotyping in routine clinical practice. (stratech.co.uk)
Commercial HIV drug resistance mutation detection kits such as TruGene and ViroSeq are FDA-approved HIV-1 genotyping products, but the home-brew Sanger sequencing methods widely used in clinical labs are more cost-effective and flexible. (stratech.co.uk)
Although the clinical relevance of these low-frequency mutations is difficult to interpret, an NGS detection method, Sentosa SQ HIV genotyping assay, has recently been approved by the FDA. (stratech.co.uk)
At the conclusion of the study, the researchers were able to use the modified version of ARMS for clinical testing of the JAK2 mutation that yielded better results. (brighthub.com)
Recommendations for clinical laboratory staff and health care providers and information about certain tests for which the FDA has identified potential impacts on performance due to SARS-CoV-2 genetic mutations are also included on this page. (fda.gov)
The spectrum of disease-causing mutations and the associated clinical features of these gene defects are unknown. (nih.gov)
The genotypes of these family members were determined, and the clinical status of 212 family members with mutations in the gene for cardiac myosin-binding protein C was assessed. (nih.gov)
eight defects (insertions, deletions, and splice mutations) were predicted to truncate cardiac myosin-binding protein C. The clinical expression of either missense or truncation mutations was similar to that observed for other genetic causes of hypertrophic cardiomyopathy, but the age at onset of the disease differed markedly. (nih.gov)
The clinical expression of mutations in the gene for cardiac myosin-binding protein C is often delayed until middle age or old age. (nih.gov)
Delayed expression of cardiac hypertrophy and a favorable clinical course may hinder recognition of the heritable nature of mutations in the cardiac myosin-binding protein C gene. (nih.gov)
Clinical prognosis and outcome of treatment are affected by viral genotype, and to date there are eight established (A-H) and two putative (I-J) genotypes, as well as several subgenotype strains described. (gu.se)
The aims of this thesis were to develop methods for genotyping and resistance mutation analysis, to investigate the impact of genotypes on clinical outcome, and to investigate the role of the regulation of viral transcripts for replication and HBsAg production. (gu.se)
Studies examining the relationship between mutation type, X-inactivation status, and severity of clinical presentation found significant differences in clinical presentation between different types of mutations. (neurology.org)
Mutations in the amino-terminus were significantly correlated with a more severe clinical presentation compared with mutations closer to the carboxyl-terminus of MeCP2. (neurology.org)
This patient series confirms the high frequency of MeCP2 gene mutations causative of RTT in females and provides data concerning the molecular basis for clinical variability (mutation type and position and X-inactivation patterns). (neurology.org)
A novel point mutation of a single T deletion at cDNA position 3964 (3964delT) was first detected in an African American patient, who has a severe phenotype and early onset of clinical symptoms. (qxmd.com)
G). This lesion, previously implicated as a IIIb mutation in a Japanese patient, was identified in a confirmed GSD-IIIa Caucasian patient presenting with mild clinical symptoms. (qxmd.com)
Screening for these mutations may provide an effective method with which to predict the clinical phenotype. (altmetric.com)
To enable future clinical trials, we performed a detailed review of the published cases with MTMR2 mutations and describe four novel cases identified through whole-exome sequencing (WES). (figshare.com)
The clinical description of the new mutations reported here overlap with previously reported CMT4B1 phenotypes caused by mutations in the phosphatase domain of MTMR2, suggesting that nonsense MTMR2 mutations, which are predicted to result in loss or disruption of the phosphatase domain, are associated with a severe phenotype and loss of independent ambulation by the early twenties. (figshare.com)
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations. (nih.gov)
Patients have access to an extensive array of clinical trials and personalized treatment regimens tailored to individual tumor mutations. (massgeneral.org)
HBV genotypes have epidemiological and clinical point of view, a characteristic geographic distribution. (who.int)

Because DASH genotyping is measuring a quantifiable change in Tm, it is capable of measuring all types of mutations, not just SNPs. (wikipedia.org)
Somewhat less severe forms of RDEB, grouped as the generalized and localized types (RDEB-gen and -loc), are caused by other types of mutations. (medlineplus.gov)
DDEB can also be caused by other types of mutations, particularly changes that affect the folding of type VII collagen. (medlineplus.gov)

SNP genotyping is the measurement of genetic variations of single nucleotide polymorphisms (SNPs) between members of a species. (wikipedia.org)
wgSNP comparison is performed to identify single nucleotide polymorphisms (SNPs) that distinguish isolates in a genotype-matched cluster. (cdc.gov)
Thus, this study reports the results of a mutation analysis of the coding region of the SLC2A10 gene and the identification of six novel single nucleotide polymorphisms. (diabetesjournals.org)

Advances in sequencing technologies may allow for more efficient diagnosis of disease by combining analyses of phenotypes and gene mutations. (molvis.org)
Title : Evaluation of von Willebrand factor phenotypes and genotypes in Hemophilia A patients with and without identified F8 mutations Personal Author(s) : Boylan, Brian;Rice, Anne S.;De Staercke, Christine;Eyster, M. Elaine;Yaish, Hassan M.;Knoll, Christine M.;Bean, Christopher J.;Miller, Connie H. (cdc.gov)
Better understanding of new mutations and the wide range of possible phenotypes led to the development of a new nomenclature proposal, based on the gene and inheritance pattern. (medscape.com)
This article is a brief introduction to the study of CMT and correlates the most common different genotypes and phenotypes. (medscape.com)

DRMs testing, an assay called genotyping, is to find allele variants in specific gene regions. (stratech.co.uk)
Except for two missense variants and one splice site variant, all variants were protein-truncating mutations. (eyehospital.nl)
Wuhan strain will continue to arise, yet not all viral variants generated through mutation of the virus are important or have immediate public health relevance. (who.int)
However, variants with specific mutations that affect the way the virus behaves are now considered either Variants of Interest (VOI) or Variants of Concern (VOC) with respect to public health implications (1). (who.int)

Drug resistance mutations (DRMs) testing allows the selection of the right therapy with optimized virologic response in people with HIV. (stratech.co.uk)

With two additional mutations, G270D and T652P, these account for up to 57% of genetic mutations in Japanese patients. (altmetric.com)

Mutations were found in 16 probands, who had 574 family members at risk of inheriting these defects. (nih.gov)
Twelve novel mutations were identified in probands from 16 families. (nih.gov)
Collectively, these recurrent missense mutations affect â ¼0.8% of unrelated NF1 mutation -positive probands in the University of Alabama at Birmingham (UAB) cohort. (bvsalud.org)
We sequenced 1,008 patients (797 with LCA, 211 with arRP) and identified 18 probands with LCA5 mutations. (eyehospital.nl)

The aim of our study was to define more precisely the phenotype and genotype of Stickler syndrome type 1 by investigating a large series of patients with a heterozygous mutation in COL2A1. (nih.gov)
Referenced article focusing on the relationship between phenotype and genotype. (cancerindex.org)

CDC began performing retrospective WGS for isolates in select genotype-matched clusters in 2012. (cdc.gov)
This information can be used to further ascertain the genetic similarity of isolates in a genotype-matched cluster and, when combined with available epidemiologic data, to help identify chains of TB transmission. (cdc.gov)
Isolates that match at ≥99.7% of the loci will form a genotype cluster, designated with a wgMLSType name. (cdc.gov)
While it is possible to produce HCV particles resembling isolates of all HCV genotypes in human hepatoma cells (HCVcc), production efficacy varies. (birmingham.ac.uk)

The PCR-based technique can be used to analyze a wide variety of germ-line and somatic mutations, such as sickle-cell anemia. (brighthub.com)

The Molecular Inversion Probe assay (Parallele Biosciences, South San Francisco, Calif, USA) [ 6 ] uses probes that can be circularized and contain two sequences complementary to regions adjacent to SNPs in the DNA target in the first step of the genotyping reaction. (hindawi.com)
The GoldenGate assay (Illumina, San Diego, Calif, USA) [ 7 , 8 ] is based on a similar principle but includes two oligonucleotides flanking the SNPs for the genotyping reactions. (hindawi.com)
The use of SNPs is being extended in the HapMap project, which aims to provide the minimal set of SNPs needed to genotype the human genome. (wikipedia.org)
The increase of interest in SNPs has been reflected by the furious development of a diverse range of SNP genotyping methods. (wikipedia.org)
SNPs result from mutations at a single position in the DNA sequence. (cdc.gov)

Herein we selected a Mendelian genetics form of familial cancer such as hereditary tumor syndromic endocrine neoplasias caused by highly penetrant germline mutations leading to pheochromocytoma-paraganglioma syndromes. (intechopen.com)
Multiple endocrine neoplasia syndrome type 1 (MEN-1), loss-of-function germline mutations in the tumor suppressor gene MEN1 increase the risk of developing pituitary, parathyroid and pancreatic islet tumors, and less commonly thymic carcinoids, lipomas and benign adrenocortical tumors. (intechopen.com)
In the case of multiple endocrine neoplasia type 2 (MEN 2), gain-of-function germline mutations clustered in specific codons of the RET proto-oncogene increase the risk of developing medullary thyroid carcinoma (MTC), phaeochromocytoma and parathyroid tumors. (intechopen.com)

Survival was generally better than that observed among patients with hypertrophic cardiomyopathy caused by other mutations in the genes for sarcomere proteins. (nih.gov)

The recessive types of dystrophic epidermolysis bullosa (RDEB) result from mutations in both copies of the COL7A1 gene in each cell. (medlineplus.gov)

In this paper we demonstrate that coupling a multiplexing procedure with our microarray method is possible for the simultaneous detection and genotyping of four point mutations, in three different genes, involved in Charcot-Marie-Tooth disease. (hindawi.com)
A mutation in JAK2 has been discovered in human myeloproliferative disorders, in which the detection of the mutation can aid in diagnosis and treatment. (brighthub.com)
Mutations in other regions of the genome may also be informative for known VOI/VOC detection. (who.int)
A number of tools are available for the detection of mutations that are characteristic of viruses defined as VOI/VOCs. (who.int)

This multiplexing can be achieved in several ways, including reducing the complexity of the genome before genotyping. (hindawi.com)
Instead, we chose to target a number of segments in different parts of the genome, and for genotypes A-C two segments each were targeted, to obtain reliable accuracy. (gu.se)
In genome-wide association studies (GWAS) genetic loci that influence complex traits are localized by inspecting associations between genotypes of genetic markers and the values of the trait of interest. (lu.se)
The VOC differ from the original Wuhan virus as they have mutations across the genome. (who.int)
Overall, these assays and approaches detect specific mutations or features such as insertions, deletions and point mutations in the SARS CoV-2 genome that are characteristic of a particular VOC/VOI using PCR. (who.int)

Linkage in "Family A"' was consistent with a β-myosin heavy chain causative mutation. (ox.ac.uk)
Causative mutations in the MeCP2 gene were identified in 63% of patients, representing a total of 30 different mutations. (neurology.org)

Putative pathogenic mutations of the COL11A1 gene were absent in this cohort of patients. (molvis.org)
At this time, it is possible to identify a pathogenic mutation in 60% to 70% of index cases with positive family histories. (thoracickey.com)

The second aimed to include all established genotypes in a multiplex genotyping assay for accurate and rapid analysis. (gu.se)

[ 4 ] } More than 400 disease-causing mutations have been reported to date. (medscape.com)

A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype. (bmj.com)
Familial hypertrophic cardiomyopathy (FHC) is an autosomal dominant disease arising from mutations in at least 9 sarcomeric protein genes. (ox.ac.uk)
Mutations in the gene for cardiac myosin-binding protein C account for approximately 15 percent of cases of familial hypertrophic cardiomyopathy. (nih.gov)
Initially, six different mutations in the MeCP2 gene were described in both sporadic and familial cases of RTT. (neurology.org)
8 Subsequent studies have identified MeCP2 mutations in approximately 65% to 80% of patients with classic RTT, although familial cases and clinically atypical cases show a lower incidence of MeCP2 mutations. (neurology.org)
Familial hemophagocytic lymphohistiocytosis may be caused by mutations in any of several genes. (medlineplus.gov)
Approximately 40 to 60 percent of cases of familial hemophagocytic lymphohistiocytosis are caused by mutations in the PRF1 or UNC13D genes. (medlineplus.gov)
The gene mutations that cause familial hemophagocytic lymphohistiocytosis impair the body's ability to regulate the immune system. (medlineplus.gov)

Molecular, antigen, and serology tests are affected by viral mutations differently due to the inherent design differences of each test. (fda.gov)

Amplification Refractory Mutation System (ARMS), also called allele-specific polymerase chain reaction (ASP) and polymerase chain reaction amplification of specific alleles (PASA), is a method used to detect single base pair mutations. (brighthub.com)
ARMS is based on allele-specific priming of the PCR process which, after the process is complete, can reveal the genotype of the patient in question. (brighthub.com)
Dynamic allele-specific hybridization (DASH) genotyping takes advantage of the differences in the melting temperature in DNA that results from the instability of mismatched base pairs. (wikipedia.org)

Four heterozygous point mutations were typed in the three genes implicated in CMT disease. (hindawi.com)

The data further revealed absence of 25‑bp repeat mutations at the shear mutation site of exon 1 of the small nuclear ribonucleoprotein polypeptide N gene in the subjects examined. (spandidos-publications.com)
Accession C0031 Systematic name Allele 1 and 2: g.22584T>G, c.189T>G, r.189u>g, p.Cys63Trp Original code PV Description Allele 1 and 2: A point mutation in the exon 3 leading to Description an amino acid change in the TSP TYPE-1 1 domain Date 09-Jun-2008 (Rel. (lu.se)

The authors found 17 novel mutations, including a complex gene rearrangement found in one individual involving two deletions and a duplication. (neurology.org)

This results in a good compromise between the power to detect causal mutations and the precision of their localization. (lu.se)

Of five full-text articles retrieved, four were finally included which provided data of 14 individuals, all of which had specific mutations in WDR72 gene. (ipcares.org)

Findings: 20 different mutations were detected in 18 patients. (uni-luebeck.de)

The DNA of each patient bores one heterozygous mutation in one of these genes. (hindawi.com)

Due to the large numbers and in an attempt to erradicate the disease by 2010, the World Health Organization recommends genotyping strains involved in outbreaks. (brighthub.com)
I. Malmström S, Hannoun C, Lindh M. (2007) Mutation analysis of lamivudine resistant hepatitis B virus strains by TaqMan PCR. (gu.se)

For instance, many mutations lie in the HIV pol gene that encodes viral protease, reverse transcriptase, integrase and other proteins. (stratech.co.uk)
The advantage of NGS is its ability to identify low frequency mutations (the threshold at 5%, for instance) in the viral population missed by Sanger sequencing. (stratech.co.uk)
This page provides information about tests authorized by the U.S. Food and Drug Administration (FDA) for the identification and differentiation of specific SARS-CoV-2 mutations and lineages as well as the impact of viral mutations on COVID-19 tests. (fda.gov)
A mutation (also referred to as viral mutation or genetic mutation) of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus is a change in the genetic sequence of the SARS-CoV-2 virus when compared with a reference sequence such as Wuhan-Hu1 (the first genetic sequence identified) or USA-WA1/2020 (the first identified in the United States). (fda.gov)
In contrast, viral activity and aminotransferase elevation persisted in genotype C infections. (gu.se)
To date, WHO has designated 4 SARS CoV-2 genotypes that meet the working definition of a VOC: i) contain mutations divergent from the Wuhan strain and ii) that the mutations impact one or more of the aspects of viral infection that have public health significance. (who.int)

However, drug resistance can be developed during the therapy due to the high mutation rate of the RNA virus. (stratech.co.uk)
Recently, a few research labs have published papers on comparing Sanger sequencing and NGS for HIV drug resistance genotyping. (stratech.co.uk)
CDC evaluates WGS data to detect mutations associated with drug resistance for surveillance purposes. (cdc.gov)

Mutations have been identified in genes encoding for sarcomere proteins and sarcomere-associated proteins, with a single mutation capable of producing HCM, but when multiple mutations occur, potentially a more severe phenotype is seen. (thoracickey.com)
Charcot-Marie-Tooth neuropathy and Centronuclear Myopathy causing mutations have been shown to occur in proteins involved in membrane remodeling and trafficking pathway mediated by phosphoinositides. (figshare.com)
This proved that the regulation of expression of these proteins involved in the membrane remodeling pathway may compensate each other's loss- or gain-of-function mutations by restoring the phosphoinositides equilibrium. (figshare.com)

One of the major limitations of our original method was the use of individual PCR products, amplified separately, for the hybridization and genotyping reaction. (hindawi.com)
The current standard method for HIV DRMs genotyping is Sanger sequencing, although other methods such as DNA hybridization and Next Generation of Sequencing (NGS) are also used. (stratech.co.uk)

Stickler syndrome is an autosomal dominant connective tissue disorder caused by mutations in different collagen genes. (nih.gov)
Most of the children with autosomal dominant forms carry mutations in the SLC4A1 gene, whereas the most common mutation in autosomal recessive type is ATP6V0A4 and ATP6V1B1 genes. (ipcares.org)
[4] Autosomal dominant forms are usually caused by mutations in the SLC4A1 gene, whereas autosomal recessive forms are mostly associated with mutations in ATP6V0A4 and ATP6V1B1 genes. (ipcares.org)

This system now combines the principle of highly specific genotyping based on stem-loop structure probes with the advantages of multiplex analysis. (hindawi.com)
Finally, the pooling of DNA samples or multiplex PCR strategies for SNP genotyping have also been described in several microarray methods, such as the original arrayed primer extension (APEX) [ 9 - 12 ] or single base extension (SBE-tags) [ 13 , 14 ] assays. (hindawi.com)
We show here that the multiplex genotyping of multiple mutation sites is possible, based on multiplex PCR DNA amplification and a stem-loop probe method. (hindawi.com)

Our results demonstrate that these NF1 missense mutations , although located outside the GAP-related domain, may be an important risk factor for a severe presentation. (bvsalud.org)
Alpha-Mannosidosis is caused by an enzyme defect due to mutations in the gene for lysosomal alpha-Mannosidase (LAMAN) affecting the lysosomal and cellular glycoprotein catabolism with severe consequences for the organism. (europa.eu)

If a molecular beacon is designed to match a wild-type allele and another to match a mutant of the allele, the two can be used to identify the genotype of an individual. (wikipedia.org)
These two mutations together account for more than 12% of the molecular defects in the GSD-III patients tested. (qxmd.com)

Malmström S, Berglin-Enquist I, Lindh M. (2010) Novel method for genotyping hepatitis B virus on the basis of TaqMan real-time PCR. (gu.se)
Our study underscores the potential of migratory flow to introduce genotype non-D hepatitis B virus into our country. (who.int)

We identified 77 different COL2A1 mutations in 100 affected individuals. (nih.gov)
Overall, 20 of 23 sporadic patients with a COL2A1 mutation had either a cleft palate or retinal detachment with vitreous anomalies. (nih.gov)
In this study, three novel and two known mutations in the COL2A1 gene were identified in six of 16 Chinese patients with Stickler syndrome. (molvis.org)
This is the first study in a cohort of Chinese patients with Stickler syndrome, and the results expand the mutation spectrum of the COL2A1 gene. (molvis.org)
Types 1 and 2 are caused by mutations in the COL2A1 (OMIM 120140 ) and COL11A1 (OMIM 120280 ) genes, respectively. (molvis.org)

Transcription efficiency was lower in vitro than in biopsies, and was not influenced by HBV core promoter mutations in transfected Huh7.5 cells. (gu.se)
Here, we adapted the JFH1-based Core-NS2 recombinant SA13/JFH1C3405G,A3696G (termed SA13/JFH1orig), of the poorly characterized genotype 5a, to Huh7.5 cells, yielding a virus with greatly improved spread kinetics and an infectivity titer of 6.7 log10 focus-forming units (FFU)/ml. (birmingham.ac.uk)
Infectious coculture assays in Huh7.5 cells showed a significant increase in cell-to-cell transmission for SA13/JFH1Core-NS5B viruses as well as viruses with only p7 and nonstructural protein mutations. (birmingham.ac.uk)

Results: We found that LOH and methylation of the PTEN promoter were significantly associated with loss of PTEN protein expression, while, PTEN mutation was a rare event. (cancerindex.org)

What is Amplification Refractory Mutation System? (brighthub.com)
It was not possible to find one single genomic segment that could be used for amplification and identification of all genotypes. (gu.se)

A more distal mutation site was associated with an earlier age of onset of symptoms and a larger number of colonic polyps, but a notable amount of intrafamilial variation was observed. (bmj.com)
While in adults, dRTA is mostly due to acquired causes, in children hereditary forms predominate resulting from mutations in genes responsible for encoding or regulating the channels involved in urinary acidification at the level of distal and collecting tubules. (ipcares.org)
At the distal tubular level, mutations in genes that encode transporters or enzymes responsible for regulating acid-base balance are the cause of hereditary dRTA. (ipcares.org)

Intergroup differences in genotype frequencies were assessed by Fisher's exact test. (isth.org)
8%) such as sub-Saharan Africa, and one complete HBV genomes and according consequence is the possible introduction to the criterion of 8% differences in into our country of genotype non-D HBV the complete nucleotide sequence of the infections. (who.int)

The impact of mutations on a test's performance is influenced by several factors, including the sequence of the variant, the design of the test, and the prevalence of the variant in the population. (fda.gov)

It is estimated that these two genes are responsible for more than 95% of the mutations in patients with Stickler syndrome ( HGMD , last updated in March 2015). (molvis.org)

These mutations alter the structure or disrupt the production of the pro-α1(VII) chain protein, which affects the production of type VII collagen. (medlineplus.gov)
Most of the COL7A1 gene mutations responsible for RDEB-sev gen result in production of abnormally short pro-α1(VII) chains that cannot form type VII collagen. (medlineplus.gov)
In many cases, these mutations alter a part of type VII collagen known as the triple helical domain. (medlineplus.gov)
Mutations that substitute other amino acids for glycine in this region can disrupt the triple-stranded structure of type VII collagen. (medlineplus.gov)
Mutations in the COL7A1 gene can also cause a rare condition called epidermolysis bullosa with congenital localized absence of skin (also known as Bart syndrome or aplasia cutis congenita type VI). (medlineplus.gov)
Genotype E immigrants and in patients affected by ac- is found in sub-Saharan Africa and geno- tive chronic hepatitis HBV-related infec- type F in South and Central America. (who.int)

Currently, manufacturers are focusing on and targeting assays to mutations in the S gene. (who.int)

The results revealed a strong link between population-specific DNA methylation, mRNA levels, and genotypes. (uncommondescent.com)
Relevant large fragments of mutations and methylation abnormalities were not found in the associated genes. (spandidos-publications.com)

These mutations abolish drug functions against HIV DNA production and virus replication. (stratech.co.uk)

Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. (nih.gov)

which means both copies of the gene in each cell have mutations. (medlineplus.gov)
A milder, dominant form of dystrophic epidermolysis bullosa (DDEB) results from mutations in one copy of the COL7A1 gene in each cell. (medlineplus.gov)

Anatomy8

Organisms13

Diseases17

Chemicals and Drugs70

Analytical, Diagnostic and Therapeutic Techniques and Equipment38

Psychiatry and Psychology1

Phenomena and Processes110

Disciplines and Occupations3

Anthropology, Education, Sociology and Social Phenomena1

Information Science5

Named Groups4

Health Care13

Geographicals3

Correlations7

Correlation9

Missense mutation3

Homozygous4

Clinical24

Types of mutations3

Single nucleotide po3

Phenotypes4

Variants4

Drug Resistance Mutations1

Genetic mutations1

Probands4

Phenotype and genotype2

Isolates4

Somatic1

SNPs5

Germline mutations3

Genes for sarcomere proteins1

Result from mutations1

Detection4

Genome5

Causative2

Pathogenic2

Assay1

Disease-causing m1

Familial8

Affected by viral1

Allele specific3

Point mutations1

Exon2

Novel mutations1

Causal mutations1

Specific mutations1

Different mutations1

Heterozygous mutation1

Strains2

Viral6

Resistance3

Proteins3

Hybridization2

Autosomal dominant3

Multiplex3

Severe2

Molecular2

Hepatitis B vir2

COL2A15

Huh7.53

PTEN1

Amplification2

Distal3

Differences2

Prevalence1

Stickler1

Type6

Assays1

Methylation2

Replication1

Mitochondrial1

Gene in each cell2