Caused by a single point mutation. Medical search. Frequent questions

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Anatomy13

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

Organisms12

Escherichia coli Saccharomyces cerevisiae Cricetinae Cercopithecus aethiops HIV-1 Xenopus laevis Mice, Mutant Strains Mice, Transgenic Xenopus Drosophila melanogaster Mice, Inbred C57BL Drosophila

Diseases13

Cell Transformation, Neoplastic Syndrome Genetic Predisposition to Disease Chromosome Deletion Genetic Diseases, X-Linked Retinitis Pigmentosa Abnormalities, Multiple MELAS Syndrome Mitochondrial Encephalomyopathies Eye Abnormalities Mitochondrial Diseases Mitochondrial Myopathies Charcot-Marie-Tooth Disease

Chemicals and Drugs71

Mutant Proteins DNA Primers Recombinant Proteins DNA DNA-Binding Proteins Bacterial Proteins Alanine Oligonucleotide Probes Transcription Factors Recombinant Fusion Proteins DNA, Complementary RNA, Messenger Proteins Membrane Proteins Nuclear Proteins RNA, Viral DNA Gyrase Threonine Carrier Proteins Glycine Valine Saccharomyces cerevisiae Proteins Proline Serine Escherichia coli Proteins Cysteine Codon DNA, Bacterial RNA Codon, Nonsense Lysine Ligands DNA, Viral Peptide Fragments Tyrosine Viral Proteins Anti-Bacterial Agents DNA, Mitochondrial Ethylnitrosourea Fungal Proteins DNA, Neoplasm Antibodies, Monoclonal Arginine Proto-Oncogene Proteins Proto-Oncogene Proteins B-raf Mutagens RNA Splice Sites Repressor Proteins Tumor Suppressor Protein p53 Eye Proteins Drosophila Proteins Oligodeoxyribonucleotides Trans-Activators Glutamic Acid RNA, Transfer, Leu DNA Transposable Elements ras Proteins Genetic Markers Amino Acids Codon, Terminator Ethyl Methanesulfonate DNA, Fungal Adenosine Triphosphatases Adaptor Proteins, Signal Transducing Neoplasm Proteins Protein-Serine-Threonine Kinases Nerve Tissue Proteins Homeodomain Proteins Membrane Transport Proteins Tumor Suppressor Proteins Oligonucleotides

Analytical, Diagnostic and Therapeutic Techniques and Equipment31

Amino Acid Substitution Mutagenesis, Site-Directed Models, Molecular DNA Mutational Analysis Polymerase Chain Reaction Cloning, Molecular Pedigree Sequence Alignment Sequence Analysis, DNA Transfection Genetic Complementation Test Restriction Mapping Protein Engineering Blotting, Western Protein Denaturation Chromosome Mapping Genetic Testing Microbial Sensitivity Tests Models, Genetic Heterozygote Detection Mutagenesis, Insertional Reverse Transcriptase Polymerase Chain Reaction Models, Biological Crosses, Genetic Enzyme Stability Crystallography, X-Ray Blotting, Southern Sequence Analysis, Protein Binding, Competitive Immunohistochemistry Models, Chemical

Phenomena and Processes119

Point Mutation Mutation Mutation, Missense Base Sequence Amino Acid Sequence Amino Acid Substitution Binding Sites Protein Structure, Tertiary Frameshift Mutation Alleles Mutagenesis Phenotype Exons Protein Binding Sequence Homology, Amino Acid Structure-Activity Relationship Germ-Line Mutation Plasmids Protein Conformation Homozygote Transcription, Genetic Kinetics Transfection Protein Structure, Secondary Promoter Regions, Genetic Genotype Temperature Heterozygote Mutation Rate Protein Stability Polymorphism, Single-Stranded Conformational Conserved Sequence Amino Acid Motifs Virus Replication Sequence Deletion Introns Protein Structure, Quaternary Protein Folding Substrate Specificity Drug Resistance Genes, Bacterial Nucleic Acid Conformation Drug Resistance, Bacterial Codon Consensus Sequence Dimerization Zinc Fingers Drug Resistance, Microbial Codon, Nonsense Phosphorylation Signal Transduction Thermodynamics Gene Expression Regulation, Bacterial Gene Deletion Gene Expression Regulation Protein Denaturation Genes, Dominant Genes, Recessive Genetic Vectors Suppression, Genetic Genes, p53 Genetic Variation Polymorphism, Genetic Genes Polymorphism, Restriction Fragment Length Genetic Linkage Founder Effect Mutagenesis, Insertional Recombination, Genetic Gene Expression Genes, Lethal Genetic Predisposition to Disease Consanguinity Polymorphism, Single Nucleotide RNA Splicing Genes, Suppressor Gene Frequency Genes, Fungal Exome Evolution, Molecular Chromosome Deletion Microsatellite Repeats Enzyme Stability Genes, BRCA1 Transcriptional Activation Time Factors Genes, Viral Protein Biosynthesis RNA Splice Sites INDEL Mutation Selection, Genetic Genes, ras Drug Resistance, Viral Sequence Homology, Nucleic Acid DNA Repair Biocatalysis DNA Transposable Elements Static Electricity Penetrance Hydrogen Bonding Genetic Markers X Chromosome Genes, BRCA2 Algorithms Loss of Heterozygosity Codon, Terminator Protein Transport Repetitive Sequences, Nucleic Acid Binding, Competitive Hydrogen-Ion Concentration Operon Genetic Heterogeneity Genes, Regulator Phylogeny Mosaicism Open Reading Frames Gene Amplification Gene Rearrangement Genes, Reporter

Disciplines and Occupations1

Immunohistochemistry

Information Science7

Molecular Sequence Data Base Sequence Amino Acid Sequence Biological Ontologies Computer Simulation Algorithms Phylogeny

Named Groups2

Jews Asian Continental Ancestry Group

Health Care4

Temperature Genetic Testing Family Health Age of Onset

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

Point Mutation Mutation Molecular Sequence Data Mutation, Missense Base Sequence Amino Acid Sequence Amino Acid Substitution Mutagenesis, Site-Directed Models, Molecular DNA Mutational Analysis Binding Sites Polymerase Chain Reaction Protein Structure, Tertiary Frameshift Mutation Alleles Cell Line Mutant Proteins Mutagenesis Phenotype Cloning, Molecular Exons DNA Primers Protein Binding Escherichia coli Sequence Homology, Amino Acid Pedigree Structure-Activity Relationship Germ-Line Mutation Sequence Alignment Recombinant Proteins Sequence Analysis, DNA Plasmids Protein Conformation Homozygote Saccharomyces cerevisiae Transcription, Genetic Kinetics Transfection DNA DNA-Binding Proteins Protein Structure, Secondary Bacterial Proteins Alanine Promoter Regions, Genetic Genotype Temperature Oligonucleotide Probes Transcription Factors Genetic Complementation Test Restriction Mapping Heterozygote Mutation Rate Cricetinae Protein Stability Polymorphism, Single-Stranded Conformational Conserved Sequence Amino Acid Motifs Virus Replication Sequence Deletion Recombinant Fusion Proteins DNA, Complementary Introns Protein Structure, Quaternary RNA, Messenger Proteins COS Cells Membrane Proteins Protein Folding Nuclear Proteins RNA, Viral DNA Gyrase HeLa Cells Substrate Specificity Threonine Carrier Proteins Drug Resistance Glycine Cell Transformation, Neoplastic Genes, Bacterial Valine Saccharomyces cerevisiae Proteins Proline Nucleic Acid Conformation Serine Escherichia coli Proteins Drug Resistance, Bacterial Cysteine Cercopithecus aethiops Codon Consensus Sequence Protein Engineering CHO Cells DNA, Bacterial Cells, Cultured Dimerization RNA Zinc Fingers Drug Resistance, Microbial Codon, Nonsense Phosphorylation

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