Frequently mutation. Medical search. Frequent questions

Mutations in the genes encoding isocitrate dehydrogenase, IDH1 and IDH2, have been reported in gliomas, myeloid leukemias, chondrosarcomas and thyroid cancer. (nih.gov)
We identified 2309 genes that were significantly hypermethylated in 19 cholangiocarcinomas with mutations in IDH1 or IDH2, compared with cholangiocarcinomas without these mutations. (nih.gov)
Half of the hypermethylated genes overlapped with DNA hypermethylation in IDH1-mutant gliobastomas, suggesting the existence of a common set of genes whose expression may be affected by mutations in IDH1 or IDH2 in different types of tumors. (nih.gov)
Mutations in genes can have no effect, alter the product of a gene, or prevent the gene from functioning properly or completely. (wikipedia.org)
Due to the damaging effects that mutations can have on genes, organisms have mechanisms such as DNA repair to prevent or correct mutations by reverting the mutated sequence back to its original state. (wikipedia.org)
Novel genes are produced by several methods, commonly through the duplication and mutation of an ancestral gene, or by recombining parts of different genes to form new combinations with new functions. (wikipedia.org)
Other types of mutation occasionally create new genes from previously noncoding DNA. (wikipedia.org)
Activating mutations of Ras genes are often observed in cancer. (nature.com)
The investigators compared the frequency of pathogenic germline mutations in monoallelic cancer-predisposing genes between patients who had experienced progression and those who had not. (medscape.com)
ATM and CHEK2 were the most frequently mutated genes. (medscape.com)
Mutations in these genes occurred, respectively, in 1.6% and 1.25% of participants who experienced progression to esophageal adenocarcinoma. (medscape.com)
Mutations in four genes have been identified in familial hemiplegic migraine (FHM), from which CACNA1A (FHM type 1) and SCN1A (FHM type 3) code for neuronal voltage-gated calcium or sodium channels, respectively, while ATP1A2 (FHM type 2) encodes the α 2 isoform of the Na + ,K + -ATPase's catalytic subunit, thus classifying FHM primarily as an ion channel/ion transporter pathology. (frontiersin.org)
Knowing which genes are mutating frequently can be useful in drug design. (livescience.com)
Splicing factor mutations alter splicing in different ways and affect the expression of different genes involved in RNA splicing, protein synthesis, and mitochondrial function, suggesting common mechanisms of action in MDS. (medscape.com)
Even though IPF remains defined by its idiopathic adjective, its most frequent identifiable genetic cause is inherited mutations in the telomerase genes [ 8 ]. (ersjournals.com)
Antimicrobial resistance occurs through different mechanisms, which include spontaneous (natural) genetic mutations and horizontal transfer of resistant genes through deoxyribonucleic acid (DNA). (who.int)
SCID results from mutations in any of more than 15 known genes. (medscape.com)
We further annotated nonrandom parallel mutations in 22 genes and demonstrated altered macrolide susceptibility co-occurring with a nonsynonymous whiB1 mutation. (cdc.gov)

It has been claimed by some, e.g. [5] that albinism can occur for a number of reasons aside from inheritance, including genetic mutations, diet, living conditions, age, disease, or injury. (wikipedia.org)
Oculocutaneous albinism (OCA) is a clearly defined set of seven types of genetic mutations which reduce or completely prevent the synthesis of eumelanin or pheomelanin , resulting in reduced pigmentation. (wikipedia.org)

Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. (wikipedia.org)
Importantly, mutations in the head of the gene, those that cause large changes in the hydropathy of the amino acid and non-conservative mutations are more likely to lead to a severe phenotype. (karger.com)
A single synonymous mutation was sufficient to alter the substrate specificity of a multidrug resistance phenotype in mammalian cells [8].Synonymous mutations affect the stability of mRNA secondary structure in mammals [9]. (i-sis.org.uk)
10%). The co-occurrence of SF3B1 with an MPN driver mutation strongly supports this diagnosis and likely accounts for its mixed MDS/MPN phenotype. (medscape.com)
Our results suggest that these novel mutations play a role in the phenotype of lung cancer. (scielo.br)
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. (medlineplus.gov)
Most mutations in ATM result in truncation and destabilisation of the protein, but certain missense and splicing errors have been shown to produce a less severe phenotype. (bmj.com)
Linkage analysis of the co-segregation of the mutation and the disease phenotype revealed a positive logarithm of odds ratio (LOD) score (1.8, θ = 0). (alzforum.org)
The enormous variants and mutations found mean that we are still far from being able to concretely clarify a genotype-phenotype relationship. (bvsalud.org)

The true incidence of somatic mutations in MDS/MPN overlap syndromes remains uncertain, since these syndromes were previously under-diagnosed. (medscape.com)
The presence of inactivating mutations, together with the deletion of the normal copy of the ATM gene in some patients with T-PLL, B-CLL, and MCL, establishes somatic inactivation of the ATM gene in the pathogenesis of lymphoid malignancies, and strongly suggests that ATM functions as a tumour suppressor. (bmj.com)
Somatic testing is performed to identify random mutations that occur post-conception in individual cells and to date, is most frequently used for cancer genetic testing. (cdc.gov)
Using the somatic mutation rate and eIF4B protein level, we identified three groups with different clinical outcomes, including a group with extremely good prognosis. (lu.se)
Based on the TBX5, GATA4, and HEY2, often simultaneously incidence of somatic mutations described in the within the same patient.9-13 The observation of two previously published reports, our study was adequately or more somatic sequence variants in the same powered to replicate the previous studies. (cdc.gov)
No evidence of patients and even within the same gene is expected somatic mutations was found in this study. (cdc.gov)

Pathogenic germline mutations were identified in 9% of patients (59 of 640) with Barrett esophagus who had high-grade dysplasia or esophageal adenocarcinoma and in only 2.7% of those who did not experience progression. (medscape.com)
Five participants (0.8%) had germline mutations in TP53 , and two (0.3%) had distinct, splice-donor mutations in CDH1 at intron 10. (medscape.com)
PTEN hamartoma tumor syndromes (PHTS) result from germline mutations to the PTEN tumor suppressor gene which can manifest in the brain as arteriovenous malformations or dural arteriovenous fistulae (dAVF). (cns.org)
By the conclusion of this session, participants should be able to: 1) Recognize PTEN hamartoma tumor syndromes (PHTS) result from germline mutations to the PTEN tumor suppressor gene which can manifest in the brain as arteriovenous malformations or dural arteriovenous fistulae. (cns.org)
The presence of missense mutations in the germline of patients with B-CLL has been reported, suggesting that some patients with B-CLL may be constitutional AT heterozygotes. (bmj.com)
Germline testing is performed to identify an inherited genetic variant that is passed down from one or both parents, or in some cases germline testing will identify a mutation which occurs for the first time in the egg or sperm cell (de novo mutation). (cdc.gov)

Finally, around 5% of patients have loss of function mutations in the UBE3A gene, a gene encoding E6-AP, a ubiquitin protein ligase. (bmj.com)
For example, loss of function mutations of the EZH2 gene are seen in around 10% of MDS/MPN cases and are associated with poor prognosis. (medscape.com)
Loss-of-function mutations of ASXL1 , which encodes a protein that recruits the PRC2 complex to the histones, is a driver event in some cases of MDS/MPN. (medscape.com)
Loss of function mutations in TERT , the telomerase reverse transcriptase gene, and TR (also known as TERC ), the telomerase RNA, underlie up to 20% and 3% of familial and sporadic pulmonary fibrosis cases, respectively [ 8 ], [ 9 ]. (ersjournals.com)

TP53 and ARID1A are frequently mutated across cancer but rarely in the same primary tumor. (nih.gov)
However, the functional relationship between TP53 and ARID1A mutations in the endometrium has not been elucidated. (nih.gov)
However, co-existing TP53-ARID1A mutations led to invasive adenocarcinoma associated with mutant ARID1A-driven ATF3 induction, reduced apoptosis, TP63+ squamous differentiation and invasion. (nih.gov)
These data suggest TP53 and ARID1A mutations drive shared and distinct tumorigenic programs in the endometrium and promote invasive endometrial cancer when existing simultaneously. (nih.gov)
Hence, TP53 and ARID1A mutations may co-occur in a subset of aggressive or metastatic endometrial cancers, with ARID1A loss promoting squamous differentiation and the acquisition of invasive properties. (nih.gov)
Both STARD12 and STARD14 were corelated with epigenetic regulation, especially TP53 mutation and m6A modification. (medsci.org)
Molecular analysis showed mutations in both EGFR and TP53 . (spandidos-publications.com)

A 2007 study on genetic variations between different species of Drosophila suggested that, if a mutation changes a protein produced by a gene, the result is likely to be harmful, with an estimated 70% of amino acid polymorphisms that have damaging effects, and the remainder being either neutral or marginally beneficial. (wikipedia.org)
NRAS»HRAS protein expression in cells that correlate with the rank order of Ras mutation frequencies in cancer. (nature.com)
FHM type 4 is attributed to mutations in the PRRT2 gene, which encodes a proline-rich transmembrane protein of as yet unknown function. (frontiersin.org)
Then, a survey is given about ATP1A2 mutations implicated in migraine cases as documented in the literature with focus on mutations that were described to completely destroy enzyme function, or lead to misfolded or mistargeted protein in particular model cell lines. (frontiersin.org)
Until the current decade, synonymous mutations were assumed to be neutral, with no effect on the protein or any other functions of the organism. (i-sis.org.uk)
Synonymous mutations may lead to changes in protein folding related to translation pausing, RNA splicing, and alterations in enzyme specificity [1]. (i-sis.org.uk)
Synonymous mutations may lead to ribosome stalling, thereby changing protein folding pathways affecting enzyme activity or antigenicity [5]. (i-sis.org.uk)
Most of the mutations that cause DFNB12 change single protein building blocks (amino acids) in cadherin 23. (medlineplus.gov)
These mutations reduce but do not eliminate the function of this protein. (medlineplus.gov)
Most of these mutations disrupt protein production, resulting in an abnormally small, nonfunctional version of cadherin 23 or preventing the production of any of this protein. (medlineplus.gov)

Yet, researchers at the ChristianaCare's Gene Editing Institute have discovered that a mutation unique to certain cancer tumors may serve as a potential signal for safely deploying CRISPR gene editing enzymes to disarm DNA that makes cancer cells resistant to treatment, without affecting healthy cells. (genengnews.com)
The cancers produce tumors that are frequently protected by the NRF2 gene. (genengnews.com)
Like squamous cell tumors, they also have mutations that create a protospacer adjacent motif (PAM) site that can serve as a target for keeping CRISPR edits focused exclusively on tumors. (genengnews.com)
Current data suggest that the efficacy of EGFR-targeted therapies in colon cancer and NSCLC is confined to patients with tumors lacking KRAS mutations. (metropolisindia.com)

In fact, ASXL1 mutations are the most common mutations in CMML, seen in around 40% of cases. (medscape.com)
Neuraminidase activity was measured using a phenotypic method for viral isolates of influenza A and B. Pyrosequencing assays were then applied to detect the common mutations related to reducing susceptibility or resistance of influenza A viruses to oseltamivir - I117V, E119V and H275Y. (who.int)

Changes in chromosome number may involve even larger mutations, where segments of the DNA within chromosomes break and then rearrange. (wikipedia.org)
The majority of haemophilia A and B cases follow X chromosome-linked inheritance patterns but haemophilia can also arise from single gene mutations leading to a clotting factor deficiency (1-5). (who.int)

A novel pathogenic mutation on the interleukin-7 receptor has been described in a newborn. (medscape.com)

Karam S, Raboisson MJ, Ducreux C, Chalabreysse L, Millat G, Bozio A, Bouvagnet P: A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy. (karger.com)

2004) Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. (scielo.br)
2005) Activating mutations in the tyrosine kinase domain of the epidermal growth factor receptor are associated with improved survival in gefitinib-treated chemorefractory lung adenocarcinomas. (scielo.br)
It occurs more frequently in male smokers, and the epidermal growth factor receptor ( EGFR ) gene is often mutation‑free. (spandidos-publications.com)

Single nucleotide mutations form the majority of genetic polymorphisms (single nucleotide polymorphisms, SNPs) in populations. (i-sis.org.uk)
In contrast to the ATM mutation pattern in AT, the most frequent nucleotide changes in these sporadic lymphoid malignancies were missense mutations. (bmj.com)

A panel of 25 female and 22 male patients with a clinical diagnosis of AS and no molecular abnormality of 15q11-13 were screened for MECP2 mutations and these were identified in four females and one male. (bmj.com)
These findings illustrate the phenotypic overlap between the two conditions and suggest that screening for MECP2 mutations should be considered in AS patients without a demonstrable molecular or cytogenetic abnormality of 15q11-13. (bmj.com)
On a molecular level, mutations in covS of Orientia tsutsugamushi isolated from humans in Eastern Taiwan. (cdc.gov)
Mutations in CDH1 and in the PI3K pathway are the most frequent molecular alterations in ILC. (lu.se)

A positive result indicates the presence of an activating KRAS mutation and can be a useful marker by which patients are selected for EGFR-targeted therapy. (metropolisindia.com)

76% of Ras-mutant cancer patients harbor KRAS mutations versus only 7% with HRAS mutations [ 1 ]. (nature.com)
KRAS mutant NSCLC is heterogenous and frequently co-mutated with STK11 and/or KEAP1. (eurekalert.org)
As such, the mutant gene and mutation type are not the primary mediators of disease severity but the telomere length defect, as previously reviewed [ 11 ]. (ersjournals.com)

The association between mutation of the ATM gene and a high incidence of lymphoid malignancy in patients with AT, together with the development of lymphoma in Atm deficient mice, supports the proposal that inactivation of the ATM gene may be of importance in the pathogenesis of sporadic lymphoid malignancy. (bmj.com)

Telomerase mutations are the most common identifiable genetic cause of IPF, and at times, the telomere defect manifests in extrapulmonary disease such as bone marrow failure. (ersjournals.com)
We gathered an international series of telomerase mutation carriers who underwent lung transplant in the USA, Australia and Sweden. (ersjournals.com)
Mutations in the telomerase accessory component, DKC1 , the dyskeratosis congenita 1 gene, can also manifest as IPF, underscoring the important role of telomere dysfunction in IPF pathogenesis [ 10 ]. (ersjournals.com)
Mutations in telomerase cause its loss of function and mediate disease through abnormally shortened telomeres [ 11 ]. (ersjournals.com)

In the reported case, genetic analysis revealed a new missense mutation in the homeodomain of LMX1B, presumed to abolish DNA binding (c.725T>C, p.Val242Ala). (amrita.edu)
A missense mutation at codon 725 was identified, where thymine was replaced by cytosine which led to the replacement of valine by alanine at position 242. (amrita.edu)

Genetic changes that are characteristic of EBVaGC include frequent mutations in PIK3CA and ARID1A and amplification of JAK2 and PD-L1/L2. (spandidos-publications.com)

We sequenced the coding regions surrounding YXXM motifs of IRS1 using tumor samples of 42 NSCLC patients and 40 matching controls and found heterozygote p.S668T mutation in nine of 42 samples and four of nine also had the p.D674H mutation. (scielo.br)

In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. (wikipedia.org)
Much like our game of telephone, the genome sequence of the SARS-CoV-2 virus changes over time: Mutations occur randomly, and any changes that occur in a given virus will be inherited by all copies of the next generation. (livescience.com)
Given a collection of viral genome sequences, we can use our models of sequence evolution to predict the virus's history, and we can use this to answer questions like, "How fast do mutations occur? (livescience.com)
or "Where in the genome do mutations occur? (livescience.com)
The SARS-CoV-2 variants (including alpha, beta, delta, and omicron) that have driven the COVID-19 pandemic all stem from mutations in the virus's genome which changed the virus's structure, making the virus more difficult for our immune systems to recognize and defend against. (learn-biology.com)

IDH1 and IDH2 mutations were significantly associated with increased levels of p53 in intrahepatic cholangiocarcinomas, but no mutations in the p53 gene were found, suggesting that mutations in IDH1 and IDH2 may cause a stress that leads to p53 activation. (nih.gov)
http://dx.doi.org/10.1016/j. tients with streptococcal toxic shock syndrome and found ijid.2012.05.1030 only 1 GBS clone harboring this kind of mutation. (cdc.gov)
SF3B1 mutations are found in 28% of MDS cases overall and in over 80% of cases of with increased ring sideroblasts. (medscape.com)
However, in this disease also other signs of central nervous system involvement are frequently found. (bmj.com)
The variant of norovirus was found and pneumonia has been reported frequently around places called hotspot. (fukushima-diary.com)
Doctors found a donor with a gene mutation that confers natural resistance to HIV. (globalnews.ca)
This gene mutation is one of the most frequently found gene mutations in autism. (spectrumnews.org)
Will the vaccines work against the new dominant mutations of the virus found in the US, UK, SA and other countries? (sowetanlive.co.za)
This H275Y mutation was not found in influenza subtypes A(H5N1) or A(H3N2) isolates. (who.int)

Mutations within the X linked MECP2 gene have been identified in patients with Rett syndrome (RTT), a neurodevelopmental disorder which affects females almost exclusively and which shares phenotypic overlap with AS. (bmj.com)
Progression free survival and overall survival outcomes were analyzed in patients with (m) or without functional mutations in KRAS, STK11 or KEAP1. (eurekalert.org)
Progression to esophageal adenocarcinoma in patients with mutations was seen across the age spectrum, suggesting that additional triggers, such as having Barrett esophagus and experiencing environmental exposures, may be necessary for carcinogenesis. (medscape.com)
A more systemic approach may be needed to curb abnormal endothelial proliferation in patients with PTEN mutation associated dAVFs. (cns.org)
Patients suffering from vascular malformations associated with PTEN mutations often undergo multiple embolizations. (cns.org)
A new technique detecting the KIT D816V mutation in the blood of patients has been suggested as a screening tool for primary mast cell disorders. (aaaai.org)
In a recent study published in The Journal of Allergy and Clinical Immunology: In Practice , De Puysseleyr and colleagues investigated the performance of the KIT D816V mutation assay in this specific group of primary mast cell disorder patients with anaphylaxis. (aaaai.org)
Frequent inactivating mutations of the ATM gene have been reported in patients with rare sporadic T cell prolymphocytic leukaemia (T-PLL), B cell chronic lymphocytic leukaemia (B-CLL), and most recently, mantle cell lymphoma (MCL). (bmj.com)

Mutations in myosin heavy chain 7 (MYH7) commonly cause cardiomyopathy. (karger.com)
KRAS mutations occur in one third of human cancers and cluster in several hotspots, with codons 12 and 13 being most commonly affected. (metropolisindia.com)

Nonlethal mutations accumulate within the gene pool and increase the amount of genetic variation. (wikipedia.org)
The abundance of some genetic changes within the gene pool can be reduced by natural selection, while other "more favorable" mutations may accumulate and result in adaptive changes. (wikipedia.org)
Mutations in cells occur more frequently and accumulate as we age. (jax.org)

[ 8 ] was renamed in the 2022 WHO classification to MDS/MPN with SF3B1 mutation and thrombocytosis, due to evolving understanding of disease biology. (medscape.com)
In biology, mutations are important in both negative and positive ways. (learn-biology.com)

Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. (wikipedia.org)
About 1 per cent of people descended from northern Europeans have inherited the mutation from both parents and are immune to most HIV. (globalnews.ca)
The transplant changed the London patient's immune system, giving him the donor's mutation and HIV resistance. (globalnews.ca)

Several dozen mutations in the CDH23 gene have been identified in people with nonsyndromic hearing loss, which is loss of hearing that is not associated with other signs and symptoms. (medlineplus.gov)

Invasive lobular carcinoma (ILC) is the second most frequently occurring histological breast cancer subtype after invasive ductal carcinoma (IDC), accounting for around 10% of all breast cancers. (lu.se)

The mutation is in a single gene called FMR1. (wisc.edu)

New gene studies investigating hundreds of families of children with autism have pointed out that mutations might be responsible for some cases of. (specialneeds.com)
For autism or intellectual disability associated with this ARID1B gene mutation, these drugs may be effective for those people," says lead investigator Woo-Yang Kim , associate professor of developmental neuroscience at University of Nebraska Medical Center in Omaha. (spectrumnews.org)

Familial Hemiplegic Migraine (FHM) is an autosomal dominantly inherited form of migraine with aura (MA, as opposed to migraine without aura, MO), in which the accompanying aura symptom of the typical half-sided headache is transient motor weakness (hemiparesis) that is frequently accompanied by other cortical symptoms. (frontiersin.org)

Strikingly diverse functional abnormalities have been identified for disease-linked ATP1A2 mutations which frequently lead to changes in the enzyme's voltage-dependent properties, kinetics, or apparent cation affinities, but some mutations are truly deleterious for enzyme function and thus cause full haploinsufficiency. (frontiersin.org)

Sequencing a vast array of genomes has revealed surprisingly, that many synonymous mutations were causing dysfunctions and illnesses in plants and animals. (i-sis.org.uk)

Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. (ca.gov)

Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication (translesion synthesis). (wikipedia.org)

Breast cancer often develops when cells grow abnormally, either from a mutation or other changes in the DNA in breast cells. (cooperhealth.org)

Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations. (karger.com)

However, the relationship between mutation location, cardiomyopathy type, change in amino acid composition and disease severity is poorly understood. (karger.com)
This study suggests that mutation location in the MYH7 gene and changes in amino acid composition can have a negative impact on the disease outcome in individuals with cardiomyopathy. (karger.com)

Synonymous mutations in the HIV gene Rev enhance HIV-1 replication, providing resistance to the drug enfuvirtide [6]. (i-sis.org.uk)

Finally, we tested the phenotypic consequences of parallel mutations by conducting antimicrobial resistance and mercury -resistance assays. (cdc.gov)
Species composition and allele frequencies for knock-down resistance (kdr-L1014F and L1014S) and acetylcholinesterase (ace-1 G119S) mutations were further characterized using polymerase chain reaction (PCR). (cdc.gov)
Antimalarial drug resistance has historically arisen through convergent de novo mutations in Plasmodium falciparum parasite populations in Southeast Asia and South America. (cdc.gov)
Introducing pfk13 C580Y or R539T mutations by gene editing into local parasites conferred high levels of in vitro artemisinin resistance. (cdc.gov)

Mutations in STK11 and KEAP1 correlate with poor prognosis and are associated with chemorefractory and immunologically "cold" tumours that are less responsive to therapy. (eurekalert.org)

The findings suggest that certain "mutations facilitate the progression of Barrett's esophagus to adenocarcinoma," the authors said. (medscape.com)

30 ng/mL who experience anaphylaxis, determination of KIT D816V mutation in blood is of limited value in making a diagnosis of an underlying primary mast cell disorder. (aaaai.org)
The pathological diagnosis was SMARCA4‑dNSCLC with an EGFR gene mutation. (spandidos-publications.com)

Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. (wikipedia.org)

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