ExonsPoint MutationMutationMutation, MissensePolymorphism, Single-Stranded ConformationalBase SequenceMolecular Sequence DataPolymerase Chain ReactionPedigreeDNA Mutational AnalysisFrameshift MutationGenotypePolymorphism, GeneticGerm-Line MutationMutation RateAmino Acid SequenceIntronsHeterozygoteAlternative SplicingAllelesAmino Acid SubstitutionSequence Analysis, DNACodon, NonsenseRNA SplicingHomozygoteMutagenesis, Site-DirectedSequence DeletionMutagenesisDNA PrimersCloning, MolecularGenes, RecessiveChromosome MappingRNA, MessengerPhenotypeGenetic TestingRNA Splice SitesDNAGenes, DominantProtein Structure, TertiaryCell LineSequence Homology, Amino AcidCodonGene DeletionSequence AlignmentBinding SitesTranscription, GeneticDNA-Binding ProteinsEscherichia coliSuppression, GeneticModels, MolecularPromoter Regions, GeneticTranscription FactorsGenes, p53GenesModels, GeneticGenetic LinkageTransfectionFounder EffectGenetic Predisposition to DiseaseSyndromeProtein BindingNuclear ProteinsMembrane ProteinsGenetic Complementation TestConsanguinityDNA, ComplementaryGenetic VariationPlasmidsRestriction MappingMutant ProteinsGene FrequencyDNA, NeoplasmSaccharomyces cerevisiaeHeterozygote DetectionCarrier ProteinsFamily HealthMutagenesis, InsertionalExomeConserved SequenceBacterial ProteinsReverse Transcriptase Polymerase Chain ReactionEvolution, MolecularGenes, LethalSequence Homology, Nucleic AcidProto-Oncogene Proteins B-rafGenes, BRCA1DNA, MitochondrialGene Expression RegulationCOS CellsRecombinant ProteinsProteinsProtein IsoformsPolymorphism, Single NucleotideMicrosatellite RepeatsProtein ConformationEye ProteinsRNA PrecursorsRecombination, GeneticGenetic Diseases, X-LinkedGene Expression