Point MutationMutation, MissenseMutationMolecular Sequence DataBase SequenceFrameshift MutationAmino Acid SequenceGerm-Line MutationPedigreeExonsDNA Mutational AnalysisAmino Acid SubstitutionPolymerase Chain ReactionGenetic VariationAllelesMutagenesis, Site-DirectedGenotypeHeterozygoteSequence Analysis, DNAPolymorphism, Single-Stranded ConformationalMutation RatePhenotypeMutagenesisHomozygoteProtein Structure, TertiarySequence DeletionCell LineDNA PrimersBinding SitesModels, MolecularGenetic Predisposition to DiseasePolymorphism, Single NucleotideSequence Homology, Amino AcidCodonCloning, MolecularEscherichia coliPolymorphism, GeneticProtein BindingCodon, NonsenseSequence AlignmentDNADNA-Binding ProteinsGene DeletionChromosome MappingTransfectionGene FrequencyGenetic TestingPlasmidsGenes, DominantTranscription FactorsGenes, RecessiveAlternative SplicingMutant ProteinsTranscription, GeneticPromoter Regions, GeneticRecombinant ProteinsRNA, MessengerBacterial ProteinsSuppression, GeneticIntronsGenes, p53Genetic Complementation TestDNA, MitochondrialMembrane ProteinsProtein ConformationSaccharomyces cerevisiaeStructure-Activity RelationshipModels, GeneticExomeKineticsNuclear ProteinsPolymorphism, Restriction Fragment LengthGenetic LinkageCarrier ProteinsSyndromeDNA, NeoplasmRecombinant Fusion ProteinsCOS CellsRNA SplicingConserved SequenceRecombination, GeneticGenesEthylnitrosoureaDNA, ComplementaryHeterozygote DetectionProtein Structure, SecondaryMutagenesis, InsertionalFounder EffectSignal TransductionGenetic Association StudiesGenes, BacterialRestriction MappingEvolution, MolecularProteinsCricetinaeCells, CulturedProtein IsoformsReverse Transcriptase Polymerase Chain ReactionConsanguinityGenes, Lethal