Causative mutation. Medical search. Frequent questions

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Anatomy11

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

Organisms14

Dogs Escherichia coli Cattle Saccharomyces cerevisiae Mice, Mutant Strains Drosophila melanogaster Cercopithecus aethiops Mice, Transgenic Cricetinae Drosophila HIV-1 Mice, Inbred C57BL Caenorhabditis elegans Mice, Knockout

Diseases25

Afibrinogenemia Retinitis Pigmentosa Syndrome Retinoschisis Cataract Genetic Predisposition to Disease Genetic Diseases, Inborn Abnormalities, Multiple Dog Diseases Hemophilia A Genetic Diseases, X-Linked Eye Abnormalities Chromosome Deletion Osteochondrodysplasias Deafness Disease Models, Animal Mitochondrial Diseases Colorectal Neoplasms Hearing Loss, Sensorineural Breast Neoplasms Cell Transformation, Neoplastic Lung Neoplasms Ovarian Neoplasms Intellectual Disability Corneal Dystrophies, Hereditary

Chemicals and Drugs70

Codon, Nonsense Ethylnitrosourea RNA Splice Sites Eye Proteins DNA Primers Genetic Markers Membrane Proteins DNA Codon DNA-Binding Proteins Transcription Factors Mutant Proteins Bacterial Proteins Nuclear Proteins DNA, Mitochondrial Proto-Oncogene Proteins B-raf Carrier Proteins DNA, Neoplasm RNA, Messenger Recombinant Proteins Mutagens Proto-Oncogene Proteins Saccharomyces cerevisiae Proteins Proteins Recombinant Fusion Proteins Tumor Suppressor Protein p53 BRCA2 Protein Repressor Proteins Fungal Proteins ras Proteins Escherichia coli Proteins DNA, Complementary Drosophila Proteins DNA, Bacterial DNA Transposable Elements Trans-Activators Codon, Terminator Ethyl Methanesulfonate Arginine Adenosine Triphosphatases Homeodomain Proteins Protein-Serine-Threonine Kinases Alanine Tumor Suppressor Proteins Neoplasm Proteins Glycine BRCA1 Protein Nerve Tissue Proteins Adaptor Proteins, Signal Transducing Serine HIV Reverse Transcriptase Membrane Transport Proteins Cytoskeletal Proteins Cysteine DNA Gyrase Cystic Fibrosis Transmembrane Conductance Regulator MutS Homolog 2 Protein Cell Cycle Proteins DNA, Viral Sodium Channels Viral Proteins Hypoxanthine Phosphoribosyltransferase Isocitrate Dehydrogenase DNA, Fungal Oligodeoxyribonucleotides Proline Aspartic Acid Receptor, Epidermal Growth Factor Oligonucleotide Probes NAV1.5 Voltage-Gated Sodium Channel

Analytical, Diagnostic and Therapeutic Techniques and Equipment28

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

Psychiatry and Psychology2

Family Intellectual Disability

Phenomena and Processes110

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

Disciplines and Occupations1

Immunohistochemistry

Anthropology, Education, Sociology and Social Phenomena1

Information Science4

Base Sequence Molecular Sequence Data Amino Acid Sequence Phylogeny

Named Groups3

Asian Continental Ancestry Group Jews Infant, Newborn

Health Care7

Genetic Testing Family Health Genome-Wide Association Study Age of Onset Temperature Ultraviolet Rays Case-Control Studies

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 Mutation Point Mutation Pedigree DNA Mutational Analysis Frameshift Mutation Exome Codon, Nonsense Exons Genes, Recessive Ethylnitrosourea Phenotype Homozygote Sequence Analysis, DNA Heterozygote Base Sequence Genetic Linkage Afibrinogenemia Molecular Sequence Data Genetic Testing Chromosome Mapping Genotype Alleles Consanguinity Genes, Dominant Retinitis Pigmentosa Syndrome Germ-Line Mutation Polymorphism, Single Nucleotide Polymerase Chain Reaction Sequence Deletion Amino Acid Substitution Amino Acid Sequence Retinoschisis Haplotypes Cataract Family Health Genetic Predisposition to Disease Genetic Diseases, Inborn Mutation Rate Mosaicism RNA Splice Sites Abnormalities, Multiple Gene Deletion Genetic Heterogeneity Eye Proteins Family Dog Diseases Genetic Association Studies DNA Primers Polymorphism, Genetic Gene Frequency Asian Continental Ancestry Group Sequence Alignment Hemophilia A Introns Lod Score Genetic Markers Genetic Variation Microsatellite Repeats Breeding Polymorphism, Single-Stranded Conformational Genome-Wide Association Study Mutagenesis, Site-Directed Membrane Proteins DNA Mutagenesis Dogs Genome Protein Structure, Tertiary Escherichia coli Suppression, Genetic Models, Molecular Codon Cattle Cell Line Binding Sites Sequence Homology, Amino Acid DNA-Binding Proteins Genetic Complementation Test Founder Effect Transcription Factors Genes, p53 Cloning, Molecular Protein Binding Mutant Proteins Saccharomyces cerevisiae Bacterial Proteins Plasmids Models, Genetic Transfection Genes, Lethal Nuclear Proteins Heterozygote Detection DNA, Mitochondrial Proto-Oncogene Proteins B-raf Genes, BRCA1 Mutagenesis, Insertional Transcription, Genetic Carrier Proteins

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