Mutation, MissenseMutationPoint MutationMutagenesis, Site-DirectedMolecular Sequence DataDNA Mutational AnalysisAmino Acid SubstitutionAmino Acid SequenceBase SequencePhenotypeFrameshift MutationModels, MolecularEscherichia coliProtein Structure, TertiaryPedigreeSequence Homology, Amino AcidBinding SitesGerm-Line MutationCell LineProtein ConformationStructure-Activity RelationshipRecombinant ProteinsExonsKineticsHeterozygotePolymorphism, Single-Stranded ConformationalAllelesMutation RateCodon, NonsensePolymerase Chain ReactionHomozygoteGenotypeGenes, RecessiveSequence Analysis, DNAGenes, DominantMutagenesisGenetic TestingSequence DeletionDNA PrimersSyndromeSuppression, GeneticCodonChromosome MappingConsanguinityDNA-Binding ProteinsGenetic LinkageSequence AlignmentMutant ProteinsGenetic Predisposition to DiseaseGenes, p53Gene DeletionGenetic Complementation TestFamily HealthTranscription FactorsFounder EffectMembrane ProteinsDNAProtein BindingCloning, MolecularPolymorphism, GeneticTransfectionGenetic VariationSaccharomyces cerevisiaeHeterozygote DetectionIntronsNuclear ProteinsGene FrequencyCarrier ProteinsModels, GeneticGenetic Diseases, X-LinkedAbnormalities, MultiplePlasmidsGenes, BRCA1Bacterial ProteinsCOS CellsAge of OnsetEye ProteinsRetinitis PigmentosaDNA, NeoplasmRNA, MessengerTranscription, GeneticPolymorphism, Single NucleotideGenes, LethalMicrosatellite RepeatsEye AbnormalitiesMutagenesis, InsertionalConserved SequenceDNA, MitochondrialRNA SplicingRNA Splice SitesProteinsEthylnitrosoureaProto-Oncogene Proteins B-rafPromoter Regions, GeneticPenetranceGenes, BacterialJewsGenesGenetic Association StudiesSignal Transduction