Homozygous missense pathogenic mutation. Medical search. Frequent questions

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Anatomy11

Cell Line Mitochondria HEK293 Cells Cells, Cultured Fibroblasts HeLa Cells COS Cells Brain Skin Muscle, Skeletal X Chromosome

Organisms5

Escherichia coli Saccharomyces cerevisiae Cercopithecus aethiops Mice, Mutant Strains Cricetinae

Diseases33

Cutis Laxa Syndrome Abnormalities, Multiple Mitochondrial Diseases Optic Atrophy, Hereditary, Leber MELAS Syndrome Mitochondrial Myopathies Usher Syndromes Genetic Predisposition to Disease Retinitis Pigmentosa Colorectal Neoplasms, Hereditary Nonpolyposis Skin Diseases, Genetic Corneal Dystrophies, Hereditary Genetic Diseases, X-Linked MERRF Syndrome Mitochondrial Encephalomyopathies Muscular Dystrophies, Limb-Girdle Hearing Loss Mandibulofacial Dysostosis Parkinson Disease Keratoderma, Palmoplantar Hearing Loss, Sensorineural Intellectual Disability Ovarian Neoplasms Prion Diseases Breast Neoplasms Amyotrophic Lateral Sclerosis Colorectal Neoplasms Disease Models, Animal Eye Abnormalities Alzheimer Disease Osteochondrodysplasias Deafness

Chemicals and Drugs44

DNA, Mitochondrial Codon, Nonsense Collagen Type VIII RNA, Transfer, Leu Eye Proteins RNA Splice Sites Mutant Proteins MutS Homolog 2 Protein DNA Primers Membrane Proteins DNA-Binding Proteins Nuclear Proteins BRCA2 Protein Carrier Proteins Adaptor Proteins, Signal Transducing Connexins Prions BRCA1 Protein Proteins Codon TRPP Cation Channels Protein-Serine-Threonine Kinases Transcription Factors DNA Adenosine Triphosphatases Ubiquitin-Protein Ligases Bacterial Proteins tau Proteins Mitochondrial Proteins DNA, Neoplasm RNA, Messenger Electron Transport Complex IV 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 Tumor Suppressor Proteins Fungal Proteins

Analytical, Diagnostic and Therapeutic Techniques and Equipment26

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

Psychiatry and Psychology3

Family Intellectual Disability Alzheimer Disease

Phenomena and Processes78

Mutation, Missense Homozygote Consanguinity Mutation Genes, Recessive Exome Point Mutation Exons Amino Acid Sequence Phenotype Base Sequence Frameshift Mutation Germ-Line Mutation Heterozygote Codon, Nonsense Amino Acid Substitution Polymorphism, Single-Stranded Conformational Genotype Alleles Genetic Predisposition to Disease Genes, Dominant Sequence Deletion Protein Structure, Tertiary RNA Splice Sites Genetic Linkage Mutation Rate Genes, BRCA1 Founder Effect Genes, BRCA2 Polymorphism, Single Nucleotide Genetic Variation Genetic Heterogeneity Polymorphism, Genetic Sequence Homology, Amino Acid Haplotypes Gene Frequency Introns Gene Deletion Microsatellite Repeats DNA Mismatch Repair Mutagenesis Protein Binding Genes, Mitochondrial Transfection Suppression, Genetic Codon Protein Structure, Secondary Protein Conformation Lod Score Polymorphism, Restriction Fragment Length Genes, p53 Binding Sites Genome, Human Protein Folding Plasmids Transcription, Genetic Genes, Lethal Mutagenesis, Insertional Conserved Sequence RNA Splicing Structure-Activity Relationship Promoter Regions, Genetic Penetrance Genes, Bacterial Genes Signal Transduction Genes, Suppressor Recombination, Genetic Kinetics Temperature Gene Expression INDEL Mutation X Chromosome Evolution, Molecular Drug Resistance, Viral Genes, Fungal DNA Repair Loss of Heterozygosity

Disciplines and Occupations1

Immunohistochemistry

Anthropology, Education, Sociology and Social Phenomena1

Information Science3

Molecular Sequence Data Amino Acid Sequence Base Sequence

Named Groups3

Asian Continental Ancestry Group Infant, Newborn Jews

Health Care6

Genetic Testing Family Health Age of Onset Case-Control Studies Cohort Studies Temperature

Geographicals2

Czech Republic China

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 Consanguinity Pedigree Mutation Genes, Recessive DNA Mutational Analysis Exome Point Mutation Molecular Sequence Data Cutis Laxa Exons Amino Acid Sequence Phenotype Syndrome Base Sequence Sequence Analysis, DNA Frameshift Mutation Abnormalities, Multiple Germ-Line Mutation Chromosome Mapping Genetic Testing Mitochondrial Diseases DNA, Mitochondrial Heterozygote Codon, Nonsense Optic Atrophy, Hereditary, Leber Amino Acid Substitution Polymorphism, Single-Stranded Conformational Collagen Type VIII Polymerase Chain Reaction Genotype MELAS Syndrome Alleles Mitochondrial Myopathies Usher Syndromes Genetic Predisposition to Disease Retinitis Pigmentosa Genes, Dominant RNA, Transfer, Leu Sequence Deletion Protein Structure, Tertiary Eye Proteins Colorectal Neoplasms, Hereditary Nonpolyposis RNA Splice Sites Family Health Skin Diseases, Genetic Mutant Proteins Age of Onset Models, Molecular Genetic Linkage Corneal Dystrophies, Hereditary MutS Homolog 2 Protein Mutation Rate Genes, BRCA1 Founder Effect Genetic Diseases, X-Linked MERRF Syndrome Genes, BRCA2 Family Polymorphism, Single Nucleotide DNA Primers Genetic Variation Mitochondrial Encephalomyopathies Asian Continental Ancestry Group Membrane Proteins Genetic Heterogeneity Sequence Alignment DNA-Binding Proteins Cell Line Nuclear Proteins Polymorphism, Genetic Sequence Homology, Amino Acid Haplotypes Genetic Association Studies Gene Frequency Mutagenesis, Site-Directed Introns Gene Deletion BRCA2 Protein Microsatellite Repeats Muscular Dystrophies, Limb-Girdle Hearing Loss Mandibulofacial Dysostosis Parkinson Disease Carrier Proteins Adaptor Proteins, Signal Transducing Keratoderma, Palmoplantar DNA Mismatch Repair Mutagenesis Protein Binding Genes, Mitochondrial Connexins Czech Republic Mitochondria Prions Hearing Loss, Sensorineural Transfection BRCA1 Protein Suppression, Genetic

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