Autosomal mutation missense. Medical search. Frequent questions

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Anatomy7

Cell Line COS Cells X Chromosome Cells, Cultured HEK293 Cells Fibroblasts HeLa Cells

Organisms7

Escherichia coli Saccharomyces cerevisiae Cercopithecus aethiops Mice, Mutant Strains Cricetinae Mice, Transgenic Drosophila melanogaster

Diseases18

Syndrome Genetic Predisposition to Disease Genetic Diseases, X-Linked Abnormalities, Multiple Retinitis Pigmentosa Eye Abnormalities Osteochondrodysplasias Hearing Loss, Sensorineural Deafness Mental Retardation, X-Linked Intellectual Disability Ectodermal Dysplasia Craniofacial Abnormalities Genetic Diseases, Inborn Neoplastic Syndromes, Hereditary Colorectal Neoplasms, Hereditary Nonpolyposis Disease Models, Animal Chromosome Deletion

Chemicals and Drugs51

Codon, Nonsense DNA Primers Codon DNA-Binding Proteins Mutant Proteins Transcription Factors Membrane Proteins DNA Nuclear Proteins Carrier Proteins Bacterial Proteins Eye Proteins DNA, Neoplasm RNA, Messenger DNA, Mitochondrial Recombinant Proteins RNA Splice Sites 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 Genetic Markers 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

Analytical, Diagnostic and Therapeutic Techniques and Equipment25

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

Psychiatry and Psychology2

Family Intellectual Disability

Phenomena and Processes86

Mutation Mutation, Missense Point Mutation Frameshift Mutation Germ-Line Mutation Exons Base Sequence Heterozygote Amino Acid Substitution Polymorphism, Single-Stranded Conformational Amino Acid Sequence Alleles Mutation Rate Codon, Nonsense Homozygote Phenotype Genotype Genes, Recessive Genes, Dominant Mutagenesis Protein Structure, Tertiary Sequence Deletion Sequence Homology, Amino Acid Suppression, Genetic Codon Consanguinity Genetic Linkage Genetic Predisposition to Disease Genes, p53 Binding Sites Gene Deletion Founder Effect Protein Binding Polymorphism, Genetic Transfection Genetic Variation Introns Gene Frequency Plasmids Genes, BRCA1 Protein Conformation Transcription, Genetic Polymorphism, Single Nucleotide Genes, Lethal Microsatellite Repeats Mutagenesis, Insertional Conserved Sequence RNA Splicing RNA Splice Sites Structure-Activity Relationship Promoter Regions, Genetic Penetrance Genes, Bacterial Genes Signal Transduction Genes, Suppressor Exome 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 Genetic Markers Gene Expression Regulation Alternative Splicing Mosaicism Amino Acid Motifs Protein Stability Phosphorylation Protein Folding DNA Transposable Elements Drug Resistance, Microbial Chromosome Deletion

Disciplines and Occupations1

Immunohistochemistry

Anthropology, Education, Sociology and Social Phenomena1

Information Science3

Molecular Sequence Data Base Sequence Amino Acid Sequence

Named Groups3

Jews Asian Continental Ancestry Group Infant, Newborn

Health Care5

Genetic Testing Family Health Age of Onset Temperature 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 Mutation, Missense Point Mutation Frameshift Mutation Pedigree Germ-Line Mutation DNA Mutational Analysis Exons Molecular Sequence Data Base Sequence Heterozygote Amino Acid Substitution Polymorphism, Single-Stranded Conformational Amino Acid Sequence Alleles Mutation Rate Codon, Nonsense Polymerase Chain Reaction Homozygote Phenotype Genotype Genes, Recessive Sequence Analysis, DNA Mutagenesis, Site-Directed Genes, Dominant Mutagenesis Protein Structure, Tertiary Genetic Testing Sequence Deletion DNA Primers Syndrome Models, Molecular Sequence Homology, Amino Acid Suppression, Genetic Codon Chromosome Mapping Consanguinity Escherichia coli DNA-Binding Proteins Genetic Linkage Cell Line Sequence Alignment Mutant Proteins Genetic Predisposition to Disease Genes, p53 Binding Sites Gene Deletion Genetic Complementation Test Family Health Transcription Factors Founder Effect Membrane Proteins DNA Protein Binding Cloning, Molecular Polymorphism, Genetic Transfection Genetic Variation Saccharomyces cerevisiae Heterozygote Detection Introns Nuclear Proteins Gene Frequency Carrier Proteins Models, Genetic Genetic Diseases, X-Linked Abnormalities, Multiple Plasmids Genes, BRCA1 Bacterial Proteins COS Cells Age of Onset Eye Proteins Protein Conformation Retinitis Pigmentosa DNA, Neoplasm RNA, Messenger Transcription, Genetic Polymorphism, Single Nucleotide Genes, Lethal Microsatellite Repeats Eye Abnormalities Mutagenesis, Insertional Conserved Sequence DNA, Mitochondrial RNA Splicing Recombinant Proteins RNA Splice Sites Proteins Structure-Activity Relationship Ethylnitrosourea Proto-Oncogene Proteins B-raf Promoter Regions, Genetic Penetrance Genes, Bacterial Jews Genes Genetic Association Studies Signal Transduction Genes, Suppressor

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