Homozygous mutation missense. Medical search. Frequent questions

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Anatomy11

Fibroblasts Cell Line Cells, Cultured COS Cells X Chromosome HEK293 Cells HeLa Cells CHO Cells Cell Line, Tumor Chromosomes, Human, X Cell Nucleus

Organisms12

Escherichia coli Mice, Knockout Saccharomyces cerevisiae Cercopithecus aethiops Mice, Mutant Strains Cricetinae Mice, Transgenic Drosophila melanogaster Mice, Inbred C57BL Drosophila Caenorhabditis elegans Zebrafish

Diseases41

Vitelliform Macular Dystrophy Syndrome Uniparental Disomy Ectopia Lentis Retinitis Pigmentosa Mitochondrial Encephalomyopathies Corneal Dystrophies, Hereditary Abnormalities, Multiple Myoclonic Epilepsies, Progressive Genetic Predisposition to Disease Intellectual Disability Genetic Diseases, X-Linked Eye Abnormalities Osteochondrodysplasias Hearing Loss, Sensorineural Deafness Mental Retardation, X-Linked Ectodermal Dysplasia Craniofacial Abnormalities Genetic Diseases, Inborn Neoplastic Syndromes, Hereditary Colorectal Neoplasms, Hereditary Nonpolyposis Disease Models, Animal Chromosome Deletion Eye Diseases, Hereditary Breast Neoplasms Facies Charcot-Marie-Tooth Disease Cataract Cardiomyopathy, Hypertrophic Microphthalmos Ovarian Neoplasms Metabolism, Inborn Errors Long QT Syndrome Cerebellar Ataxia Noonan Syndrome Mitochondrial Diseases Colorectal Neoplasms Cardiomyopathy, Hypertrophic, Familial Hearing Loss Limb Deformities, Congenital

Chemicals and Drugs63

Codon, Nonsense RNA Splice Sites Receptors, Pituitary Hormone-Regulating Hormone DNA Primers DNA DNA-Binding Proteins Eye Proteins Membrane Proteins Transcription Factors RNA, Messenger Proteins Genetic Markers Codon Mutant Proteins Nuclear Proteins Carrier Proteins Bacterial Proteins DNA, Neoplasm DNA, Mitochondrial Recombinant Proteins Ethylnitrosourea Proto-Oncogene Proteins B-raf DNA, Complementary Proto-Oncogene Proteins Tumor Suppressor Protein p53 Saccharomyces cerevisiae Proteins Recombinant Fusion Proteins Repressor Proteins Mutagens BRCA2 Protein Tumor Suppressor Proteins Fungal Proteins BRCA1 Protein Codon, Terminator Drosophila Proteins Glycine Escherichia coli Proteins Arginine Homeodomain Proteins MutS Homolog 2 Protein Ethyl Methanesulfonate Trans-Activators Adaptor Proteins, Signal Transducing Neoplasm Proteins Protein-Serine-Threonine Kinases DNA, Bacterial Nerve Tissue Proteins ras Proteins Adenosine Triphosphatases Alanine DNA Transposable Elements Sodium Channels NAV1.5 Voltage-Gated Sodium Channel Cytoskeletal Proteins Cysteine Serine Membrane Transport Proteins Cell Cycle Proteins Proline Cystic Fibrosis Transmembrane Conductance Regulator ATP-Binding Cassette Transporters Aspartic Acid Valine

Analytical, Diagnostic and Therapeutic Techniques and Equipment29

Pedigree DNA Mutational Analysis Amino Acid Substitution Sequence Analysis, DNA Polymerase Chain Reaction Chromosome Mapping Genetic Testing Fatal Outcome Genetic Association Studies Mutagenesis, Site-Directed Models, Molecular Reverse Transcriptase Polymerase Chain Reaction Sequence Alignment Case-Control Studies Genetic Complementation Test Cloning, Molecular Transfection Heterozygote Detection Models, Genetic Mutagenesis, Insertional Crosses, Genetic Restriction Mapping Blotting, Western Immunohistochemistry Models, Biological Disease Models, Animal Facies Blotting, Southern Cohort Studies

Psychiatry and Psychology3

Family Siblings Intellectual Disability

Phenomena and Processes102

Mutation, Missense Homozygote Mutation Consanguinity Point Mutation Genes, Recessive Frameshift Mutation Heterozygote Exons Base Sequence Codon, Nonsense Phenotype Exome Amino Acid Sequence Amino Acid Substitution Uniparental Disomy Polymorphism, Single-Stranded Conformational Germ-Line Mutation Alleles Genotype RNA Splice Sites Genetic Linkage Sequence Deletion Polymorphism, Single Nucleotide Genetic Predisposition to Disease Sequence Homology, Amino Acid Mutation Rate Gene Deletion Introns Haplotypes Conserved Sequence Microsatellite Repeats Genes, Dominant Genetic Markers Mutagenesis Lod Score Protein Structure, Tertiary Suppression, Genetic Codon Genes, p53 Binding Sites Founder Effect Protein Binding Polymorphism, Genetic Transfection Genetic Variation Gene Frequency Plasmids Genes, BRCA1 Protein Conformation Transcription, Genetic Genes, Lethal Mutagenesis, Insertional RNA Splicing Structure-Activity Relationship Promoter Regions, Genetic Penetrance Genes, Bacterial Genes Signal Transduction Genes, Suppressor Polymorphism, Restriction Fragment Length Genetic Heterogeneity Recombination, Genetic Kinetics Protein Structure, Secondary Genes, BRCA2 Temperature Gene Expression INDEL Mutation X Chromosome Evolution, Molecular Drug Resistance, Viral Genes, Fungal DNA Repair Loss of Heterozygosity Protein Transport Selection, Genetic Codon, Terminator Gene Expression Regulation Alternative Splicing Mosaicism Amino Acid Motifs Protein Stability Phosphorylation Protein Folding DNA Transposable Elements Drug Resistance, Microbial Chromosome Deletion Genes, Tumor Suppressor Gene Expression Regulation, Bacterial Genes, APC Base Pair Mismatch Dimerization Drug Resistance Chromosomes, Human, X Virus Replication Ultraviolet Rays Time Factors Open Reading Frames Sequence Homology, Nucleic Acid Catalytic Domain

Disciplines and Occupations1

Immunohistochemistry

Anthropology, Education, Sociology and Social Phenomena2

Family Siblings

Information Science4

Molecular Sequence Data Base Sequence Amino Acid Sequence Fatal Outcome

Named Groups4

Infant, Newborn Siblings Asian Continental Ancestry Group Jews

Health Care8

Family Health Genetic Testing Fatal Outcome Age of Onset Case-Control Studies Temperature Cohort Studies Ultraviolet Rays

Geographicals1

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Disciplines and Occupations Anthropology, Education, Sociology and Social Phenomena Information Science Named Groups Health Care Geographicals

Mutation, Missense Homozygote Mutation Consanguinity Pedigree Point Mutation Genes, Recessive DNA Mutational Analysis Frameshift Mutation Heterozygote Exons Molecular Sequence Data Base Sequence Codon, Nonsense Phenotype Exome Amino Acid Sequence Vitelliform Macular Dystrophy Syndrome Amino Acid Substitution Uniparental Disomy Sequence Analysis, DNA Polymorphism, Single-Stranded Conformational Germ-Line Mutation Ectopia Lentis Polymerase Chain Reaction Alleles Genotype RNA Splice Sites Retinitis Pigmentosa Genetic Linkage Chromosome Mapping Mitochondrial Encephalomyopathies Family Health Corneal Dystrophies, Hereditary Abnormalities, Multiple Sequence Deletion Myoclonic Epilepsies, Progressive Genetic Testing Fatal Outcome Receptors, Pituitary Hormone-Regulating Hormone Polymorphism, Single Nucleotide Infant, Newborn Genetic Predisposition to Disease Sequence Homology, Amino Acid DNA Primers Mutation Rate DNA Family DNA-Binding Proteins Gene Deletion Eye Proteins Genetic Association Studies Introns Siblings Membrane Proteins Age of Onset Intellectual Disability Transcription Factors Turkey Mutagenesis, Site-Directed Haplotypes Conserved Sequence RNA, Messenger Microsatellite Repeats Genes, Dominant Asian Continental Ancestry Group Proteins Genetic Markers Mutagenesis Lod Score Protein Structure, Tertiary Models, Molecular Suppression, Genetic Codon Fibroblasts Reverse Transcriptase Polymerase Chain Reaction Escherichia coli Cell Line Sequence Alignment Mutant Proteins Cells, Cultured Genes, p53 Binding Sites Case-Control Studies Genetic Complementation Test Founder Effect Protein Binding Cloning, Molecular Polymorphism, Genetic Mice, Knockout Transfection Genetic Variation Saccharomyces cerevisiae Heterozygote Detection Nuclear Proteins Gene Frequency Carrier Proteins Models, Genetic Genetic Diseases, X-Linked

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