Point MutationMutation, MissenseGenes, DominantMutationFrameshift MutationPedigreeGerm-Line MutationBase SequenceMolecular Sequence DataMutation RateHeterozygoteExonsAmino Acid SubstitutionDNA Mutational AnalysisAllelesPolymerase Chain ReactionPolymorphism, Single-Stranded ConformationalGenotypeMutagenesis, Site-DirectedSequence Analysis, DNAGenes, RecessiveHomozygotePhenotypeMutagenesisCodon, NonsenseAmino Acid SequenceChromosome MappingSequence DeletionGenetic LinkageDNA PrimersProtein Structure, TertiaryCell LineGenetic TestingSuppression, GeneticDNA-Binding ProteinsEscherichia coliModels, MolecularTranscription FactorsBinding SitesSequence Homology, Amino AcidCodonSyndromeProtein BindingGenetic Complementation TestGene DeletionTransfectionCloning, MolecularDNAGenetic Predisposition to DiseaseMembrane ProteinsFounder EffectSequence AlignmentModels, GeneticMutant ProteinsPlasmidsGenes, LethalGenes, p53Saccharomyces cerevisiaeSignal TransductionBacterial ProteinsNuclear ProteinsConsanguinityTranscription, GeneticRetinitis PigmentosaFamily HealthPolymorphism, GeneticRNA, MessengerPromoter Regions, GeneticGenetic VariationCarrier ProteinsExomeCrosses, GeneticMutagenesis, InsertionalHeterozygote DetectionGene FrequencyMicrosatellite RepeatsDNA, MitochondrialRecombinant ProteinsAge of OnsetEye ProteinsProtein ConformationIntronsPenetranceCOS CellsGenes, SuppressorProto-Oncogene Proteins B-rafRecombination, GeneticGenes, BacterialGenes, BRCA1ProteinsProto-Oncogene ProteinsCells, CulturedKineticsStructure-Activity RelationshipDNA, NeoplasmPolymorphism, Restriction Fragment LengthRecombinant Fusion ProteinsGenesGenetic MarkersAbnormalities, Multiple