Mutations cause autosomal. Medical search. Frequent questions

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Anatomy11

Cell Line COS Cells Cells, Cultured HEK293 Cells Fibroblasts X Chromosome HeLa Cells Mitochondria Brain Cell Nucleus Cell Line, Tumor

Organisms15

Escherichia coli Saccharomyces cerevisiae Mice, Mutant Strains Mice, Transgenic Drosophila Drosophila melanogaster Cercopithecus aethiops Zebrafish Caenorhabditis elegans Mice, Inbred C57BL Mice, Knockout Cricetinae Arabidopsis Animals, Genetically Modified Mice, Neurologic Mutants

Diseases50

Syndrome Eye Abnormalities Genetic Predisposition to Disease Genetic Diseases, X-Linked Myasthenic Syndromes, Congenital Abnormalities, Multiple Osteochondrodysplasias Mitochondrial Diseases Retinitis Pigmentosa Facies Disease Models, Animal Limb Deformities, Congenital Mental Retardation, X-Linked Craniofacial Abnormalities Lissencephaly MELAS Syndrome Deafness Intellectual Disability Charcot-Marie-Tooth Disease Hearing Loss, Sensorineural Corneal Dystrophies, Hereditary Cardiomyopathy, Hypertrophic, Familial Retinal Degeneration Microphthalmos Ataxia Noonan Syndrome Kartagener Syndrome Long QT Syndrome Cerebellar Ataxia Nervous System Malformations Hand Deformities, Congenital Walker-Warburg Syndrome Cataract Ectromelia Renal Tubular Transport, Inborn Errors Hypokalemic Periodic Paralysis Dwarfism Keratoderma, Palmoplantar Muscular Dystrophies, Limb-Girdle Craniosynostoses Muscular Dystrophies Dentin Dysplasia Hypopigmentation Muscular Diseases Frasier Syndrome Leigh Disease Hearing Loss Myotonia Congenita Kallmann Syndrome Dentinogenesis Imperfecta

Chemicals and Drugs63

Codon, Nonsense DNA Primers Mutant Proteins Membrane Proteins Transcription Factors DNA-Binding Proteins DNA Codon DNA, Mitochondrial Nuclear Proteins Carrier Proteins RNA, Messenger Drosophila Proteins Bacterial Proteins Eye Proteins RNA Splice Sites Saccharomyces cerevisiae Proteins Proteins Recombinant Proteins RNA, Transfer, Leu Fungal Proteins Repressor Proteins Homeodomain Proteins DNA, Complementary Recombinant Fusion Proteins Proto-Oncogene Proteins B-raf Proto-Oncogene Proteins DNA, Neoplasm Arginine Codon, Terminator Nerve Tissue Proteins Protein-Serine-Threonine Kinases Lamin Type A Trans-Activators DNA Transposable Elements Escherichia coli Proteins Glycine Genetic Markers Cell Cycle Proteins Mutagens Sodium Channels Caenorhabditis elegans Proteins Adenosine Triphosphatases Arabidopsis Proteins DNA, Bacterial Connexins Ethylnitrosourea Tumor Suppressor Proteins Alanine Proline Membrane Transport Proteins Serine Adaptor Proteins, Signal Transducing Receptor, Fibroblast Growth Factor, Type 3 Tumor Suppressor Protein p53 Cytoskeletal Proteins Extracellular Matrix Proteins DNA, Fungal KCNQ1 Potassium Channel BRCA2 Protein Intracellular Signaling Peptides and Proteins Isoleucine Neoplasm Proteins

Analytical, Diagnostic and Therapeutic Techniques and Equipment27

Pedigree DNA Mutational Analysis Amino Acid Substitution Polymerase Chain Reaction Mutagenesis, Site-Directed Sequence Analysis, DNA Chromosome Mapping Models, Molecular Genetic Complementation Test Sequence Alignment Cloning, Molecular Genetic Testing Transfection Mutagenesis, Insertional Heterozygote Detection Models, Genetic Crosses, Genetic Reverse Transcriptase Polymerase Chain Reaction Facies Disease Models, Animal Restriction Mapping Blotting, Western Genetic Association Studies Immunohistochemistry Models, Biological Gene Knock-In Techniques Crystallography, X-Ray

Psychiatry and Psychology2

Intellectual Disability Family

Phenomena and Processes91

Mutation, Missense Point Mutation Mutation Frameshift Mutation Germ-Line Mutation Base Sequence Heterozygote Amino Acid Substitution Exons Homozygote Amino Acid Sequence Phenotype Alleles Codon, Nonsense Genes, Recessive Genes, Dominant Mutation Rate Polymorphism, Single-Stranded Conformational Genotype Mutagenesis Protein Structure, Tertiary Consanguinity Sequence Deletion Suppression, Genetic Sequence Homology, Amino Acid Gene Deletion Exome Genetic Linkage Binding Sites Protein Binding Codon Genes, Lethal Genetic Predisposition to Disease Transfection Mutagenesis, Insertional Plasmids Protein Conformation Genes, Suppressor RNA Splicing Transcription, Genetic Introns Signal Transduction RNA Splice Sites Founder Effect Genes, p53 Genes Genes, Fungal Kinetics Promoter Regions, Genetic Genetic Variation Temperature Penetrance Structure-Activity Relationship Genes, Bacterial Protein Structure, Secondary Recombination, Genetic Conserved Sequence Gene Expression Regulation Gene Expression Protein Transport Polymorphism, Restriction Fragment Length Gene Expression Regulation, Developmental Polymorphism, Genetic Haploinsufficiency Genes, BRCA1 Protein Stability Gene Frequency Codon, Terminator Polymorphism, Single Nucleotide Protein Folding DNA Repair Alternative Splicing Phosphorylation Microsatellite Repeats X Chromosome Drug Resistance, Viral DNA Transposable Elements Genes, Insect Genetic Markers Amino Acid Motifs INDEL Mutation Genes, BRCA2 Genes, Helminth Selection, Genetic Evolution, Molecular Gene Expression Regulation, Bacterial Genes, Regulator Time Factors Operon Protein Biosynthesis Dimerization

Disciplines and Occupations1

Immunohistochemistry

Anthropology, Education, Sociology and Social Phenomena1

Information Science3

Molecular Sequence Data Base Sequence Amino Acid Sequence

Named Groups3

Asian Continental Ancestry Group Jews Infant, Newborn

Health Care4

Genetic Testing Family Health Age of Onset Temperature

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

Mutation, Missense Point Mutation Mutation Frameshift Mutation Pedigree Germ-Line Mutation Molecular Sequence Data Base Sequence DNA Mutational Analysis Heterozygote Amino Acid Substitution Exons Homozygote Amino Acid Sequence Phenotype Alleles Codon, Nonsense Genes, Recessive Genes, Dominant Mutation Rate Polymerase Chain Reaction Mutagenesis, Site-Directed Polymorphism, Single-Stranded Conformational Genotype Sequence Analysis, DNA Mutagenesis Chromosome Mapping Protein Structure, Tertiary Consanguinity Models, Molecular Sequence Deletion Syndrome Suppression, Genetic DNA Primers Sequence Homology, Amino Acid Mutant Proteins Cell Line Gene Deletion Genetic Complementation Test Exome Sequence Alignment Membrane Proteins Escherichia coli Transcription Factors DNA-Binding Proteins Genetic Linkage Cloning, Molecular Genetic Testing Saccharomyces cerevisiae Binding Sites Protein Binding DNA Codon Genes, Lethal Eye Abnormalities Genetic Predisposition to Disease DNA, Mitochondrial Nuclear Proteins Transfection Family Health Mice, Mutant Strains Mutagenesis, Insertional Genetic Diseases, X-Linked Heterozygote Detection Carrier Proteins Models, Genetic Plasmids Protein Conformation RNA, Messenger Genes, Suppressor RNA Splicing Transcription, Genetic Introns Drosophila Proteins Mice, Transgenic Myasthenic Syndromes, Congenital Bacterial Proteins Abnormalities, Multiple Osteochondrodysplasias Eye Proteins COS Cells Signal Transduction RNA Splice Sites Saccharomyces cerevisiae Proteins Proteins Age of Onset Founder Effect Genes, p53 Crosses, Genetic Recombinant Proteins Genes Mitochondrial Diseases Genes, Fungal Kinetics Promoter Regions, Genetic Drosophila Genetic Variation Temperature Penetrance RNA, Transfer, Leu

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