Mutations or defects. Medical search. Frequent questions

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Anatomy14

Cell Line Cells, Cultured COS Cells Fibroblasts X Chromosome HeLa Cells HEK293 Cells Cell Nucleus Cell Line, Tumor Mitochondria Cell Membrane CHO Cells Embryo, Nonmammalian Embryo, Mammalian

Organisms15

Escherichia coli Saccharomyces cerevisiae Mice, Mutant Strains Mice, Knockout Mice, Transgenic Mice, Inbred C57BL Drosophila melanogaster Drosophila Zebrafish Cricetinae Cercopithecus aethiops Caenorhabditis elegans Animals, Genetically Modified HIV-1 Arabidopsis

Diseases25

Heart Defects, Congenital Heart Septal Defects, Ventricular Syndrome Heart Septal Defects, Atrial Genetic Predisposition to Disease Abnormalities, Multiple Heart Septal Defects Eye Abnormalities Genetic Diseases, X-Linked Retinitis Pigmentosa Disease Models, Animal Congenital Abnormalities Limb Deformities, Congenital Craniofacial Abnormalities Mitochondrial Diseases Chromosome Deletion Osteochondrodysplasias Genetic Diseases, Inborn Deafness Intellectual Disability Hearing Loss, Sensorineural Cell Transformation, Neoplastic Metabolism, Inborn Errors Breast Neoplasms Colorectal Neoplasms

Chemicals and Drugs63

Codon, Nonsense DNA Primers DNA-Binding Proteins Transcription Factors Codon Membrane Proteins DNA Mutant Proteins Nuclear Proteins Carrier Proteins Saccharomyces cerevisiae Proteins RNA, Messenger DNA, Mitochondrial Bacterial Proteins Fungal Proteins Proto-Oncogene Proteins B-raf Recombinant Proteins DNA, Neoplasm Drosophila Proteins Proteins Eye Proteins Recombinant Fusion Proteins Proto-Oncogene Proteins Repressor Proteins Mutagens Ethylnitrosourea Homeodomain Proteins RNA Splice Sites DNA, Complementary Escherichia coli Proteins Tumor Suppressor Protein p53 Protein-Serine-Threonine Kinases ras Proteins BRCA2 Protein DNA Transposable Elements Nerve Tissue Proteins Genetic Markers DNA, Bacterial Adenosine Triphosphatases Adaptor Proteins, Signal Transducing Tumor Suppressor Proteins Codon, Terminator Membrane Transport Proteins Cytoskeletal Proteins Arginine Ethyl Methanesulfonate Neoplasm Proteins Trans-Activators Alanine Caenorhabditis elegans Proteins DNA, Fungal Glycine Serine BRCA1 Protein Cystic Fibrosis Transmembrane Conductance Regulator Intracellular Signaling Peptides and Proteins Viral Proteins Cysteine Zebrafish Proteins MutS Homolog 2 Protein Protein Subunits HIV Reverse Transcriptase DNA, Viral

Analytical, Diagnostic and Therapeutic Techniques and Equipment28

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

Psychiatry and Psychology2

Family Intellectual Disability

Phenomena and Processes112

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

Disciplines and Occupations1

Immunohistochemistry

Anthropology, Education, Sociology and Social Phenomena1

Information Science3

Base Sequence Molecular Sequence Data Amino Acid Sequence

Named Groups3

Jews Infant, Newborn Asian Continental Ancestry Group

Health Care6

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

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Phenomena and Processes Disciplines and Occupations Information Science Named Groups Health Care

Point Mutation Mutation, Missense Mutation Frameshift Mutation Germ-Line Mutation Pedigree Base Sequence Mutation Rate Molecular Sequence Data Heterozygote Exons Amino Acid Substitution Alleles DNA Mutational Analysis Polymerase Chain Reaction Amino Acid Sequence Homozygote Polymorphism, Single-Stranded Conformational Mutagenesis, Site-Directed Phenotype Mutagenesis Genotype Codon, Nonsense Sequence Analysis, DNA Genes, Recessive Sequence Deletion DNA Primers Genes, Dominant Protein Structure, Tertiary Gene Deletion Genetic Complementation Test Heart Defects, Congenital Escherichia coli DNA-Binding Proteins Cell Line Genetic Testing Chromosome Mapping Heart Septal Defects, Ventricular Transcription Factors Sequence Homology, Amino Acid Models, Molecular Saccharomyces cerevisiae Syndrome Heart Septal Defects, Atrial Suppression, Genetic Binding Sites Codon Membrane Proteins Cloning, Molecular Protein Binding Sequence Alignment Genes, Lethal DNA Mutant Proteins Genetic Linkage Nuclear Proteins Consanguinity Genes, p53 Founder Effect Plasmids Genetic Predisposition to Disease Models, Genetic Signal Transduction Carrier Proteins Abnormalities, Multiple Saccharomyces cerevisiae Proteins Transfection Mutagenesis, Insertional RNA, Messenger Mice, Mutant Strains DNA, Mitochondrial Bacterial Proteins Heterozygote Detection Polymorphism, Genetic Promoter Regions, Genetic Family Health Exome Recombination, Genetic Introns Genes, Bacterial Fungal Proteins Crosses, Genetic Heart Septal Defects Genes, Fungal Temperature Genes, Suppressor Proto-Oncogene Proteins B-raf Genes, BRCA1 Genetic Variation Recombinant Proteins Cells, Cultured Mice, Knockout Protein Conformation Transcription, Genetic Gene Frequency Kinetics DNA, Neoplasm Drosophila Proteins Mice, Transgenic Proteins

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