Mutation, MissensePoint MutationMutationFrameshift MutationPedigreeGerm-Line MutationDNA Mutational AnalysisExonsMolecular Sequence DataBase SequenceHeterozygoteAmino Acid SubstitutionPolymorphism, Single-Stranded ConformationalAmino Acid SequenceAllelesMutation RateCodon, NonsensePolymerase Chain ReactionHomozygotePhenotypeGenotypeGenes, RecessiveSequence Analysis, DNAMutagenesis, Site-DirectedGenes, DominantMutagenesisProtein Structure, TertiaryGenetic TestingSequence DeletionDNA PrimersSyndromeModels, MolecularSequence Homology, Amino AcidSuppression, GeneticCodonChromosome MappingConsanguinityEscherichia coliDNA-Binding ProteinsGenetic LinkageCell LineSequence AlignmentMutant ProteinsGenetic Predisposition to DiseaseGenes, p53Binding SitesGene 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 ProteinsProtein ConformationRetinitis PigmentosaDNA, NeoplasmRNA, MessengerTranscription, GeneticPolymorphism, Single NucleotideGenes, LethalMicrosatellite RepeatsEye AbnormalitiesMutagenesis, InsertionalConserved SequenceDNA, MitochondrialRNA SplicingRecombinant ProteinsRNA Splice SitesProteinsStructure-Activity RelationshipEthylnitrosoureaProto-Oncogene Proteins B-rafPromoter Regions, GeneticPenetranceGenes, BacterialJewsGenesGenetic Association StudiesSignal TransductionGenes, Suppressor