Point MutationMutation, MissenseMutationFrameshift MutationGerm-Line MutationPedigreeMutation RateBase SequenceExonsAmino Acid SubstitutionHeterozygoteMolecular Sequence DataPolymerase Chain ReactionDNA Mutational AnalysisAllelesPolymorphism, Single-Stranded ConformationalMutagenesis, Site-DirectedAmino Acid SequenceHomozygoteCodon, NonsenseMutagenesisGenotypeSequence Analysis, DNAY ChromosomeGenes, RecessiveReceptors, Purinergic P2Y1Sequence DeletionGenes, DominantGenetic TestingProtein Structure, TertiaryDNA PrimersEscherichia coliModels, MolecularSuppression, GeneticPhenotypeCell LineBinding SitesChromosome MappingCodonSequence Homology, Amino AcidDNA-Binding ProteinsGenetic Complementation TestGene DeletionTranscription FactorsFounder EffectCloning, MolecularProtein BindingGenes, p53SyndromeDNAMutant ProteinsMembrane ProteinsGenetic LinkageSequence AlignmentGenetic Predisposition to DiseaseBacterial ProteinsPlasmidsSaccharomyces cerevisiaeConsanguinityModels, GeneticTransfectionGenes, LethalNuclear ProteinsPolymorphism, GeneticDNA, MitochondrialHeterozygote DetectionTranscription, GeneticMutagenesis, InsertionalExomeProto-Oncogene Proteins B-rafGenes, BRCA1Family HealthGenetic VariationCarrier ProteinsPromoter Regions, GeneticGene FrequencyRNA, MessengerProtein ConformationDNA, NeoplasmIntronsGenes, BacterialStructure-Activity RelationshipKineticsRecombination, GeneticSignal TransductionDrug Resistance, ViralMicrosatellite RepeatsGenesRecombinant ProteinsCOS CellsJewsGenes, SuppressorAge of OnsetConserved SequenceCrosses, GeneticEye ProteinsMutagensTemperatureProto-Oncogene ProteinsINDEL Mutation