Point MutationMutation, MissenseMutationFrameshift MutationGerm-Line MutationPedigreeMutation RateExonsBase SequenceHeterozygoteAmino Acid SubstitutionPolymerase Chain ReactionDNA Mutational AnalysisMolecular Sequence DataAllelesPolymorphism, Single-Stranded ConformationalMutagenesis, Site-DirectedGenotypeAmino Acid SequenceHomozygoteCodon, NonsenseMutagenesisSequence Analysis, DNAGenes, RecessiveGenes, DominantSequence DeletionGenetic TestingDNA PrimersProtein Structure, TertiaryEscherichia coliSuppression, GeneticChromosome MappingModels, MolecularPhenotypeCell LineCodonDNA-Binding ProteinsBinding SitesSequence Homology, Amino AcidSyndromeGene DeletionTranscription FactorsGenetic Complementation TestGenetic Predisposition to DiseaseFounder EffectGenes, p53Cloning, MolecularDNAGenetic LinkageProtein BindingSequence AlignmentMembrane ProteinsMutant ProteinsConsanguinitySaccharomyces cerevisiaeModels, GeneticBacterial ProteinsPlasmidsNuclear ProteinsFamily HealthTransfectionTime FactorsPolymorphism, GeneticHeterozygote DetectionGenes, LethalTranscription, GeneticDNA, MitochondrialRNA, MessengerExomeGenes, BRCA1Gene FrequencyMutagenesis, InsertionalProto-Oncogene Proteins B-rafCarrier ProteinsPromoter Regions, GeneticGenetic VariationDNA, NeoplasmIntronsKineticsGenes, BacterialProtein ConformationRecombinant ProteinsMicrosatellite RepeatsRecombination, GeneticStructure-Activity RelationshipJewsDrug Resistance, ViralGenesEye ProteinsGenes, SuppressorCrosses, GeneticAge of OnsetSignal TransductionCOS CellsPenetranceTemperatureProteinsGenetic Diseases, X-LinkedProto-Oncogene ProteinsConserved Sequence