PhenotypePoint MutationMutation, MissenseMutationFrameshift MutationGerm-Line MutationPedigreeBase SequenceMolecular Sequence DataHeterozygoteAllelesExonsMutation RateGenotypeAmino Acid SubstitutionAmino Acid SequenceDNA Mutational AnalysisPolymerase Chain ReactionHomozygoteMutagenesisMutagenesis, Site-DirectedSequence Analysis, DNAPolymorphism, Single-Stranded ConformationalCodon, NonsenseChromosome MappingGenes, RecessiveGenes, DominantGenetic Complementation TestDNA PrimersGene DeletionCell LineSequence DeletionSuppression, GeneticEscherichia coliTranscription FactorsDNA-Binding ProteinsProtein Structure, TertiarySequence Homology, Amino AcidGenetic TestingCloning, MolecularGenetic LinkageMembrane ProteinsBacterial ProteinsSaccharomyces cerevisiaeSyndromeModels, GeneticModels, MolecularGenetic Predisposition to DiseaseRNA, MessengerSignal TransductionBinding SitesSequence AlignmentCodonPlasmidsMutagenesis, InsertionalGenes, LethalProtein BindingDNACells, CulturedTransfectionNuclear ProteinsGenetic VariationTranscription, GeneticCrosses, GeneticPolymorphism, GeneticMutant ProteinsMice, TransgenicMice, Inbred C57BLFounder EffectCarrier ProteinsGenes, BacterialGenes, p53Promoter Regions, GeneticConsanguinityGene ExpressionGene Expression RegulationMice, KnockoutMice, Mutant StrainsReverse Transcriptase Polymerase Chain ReactionGene FrequencyFamily HealthRecombination, GeneticDrosophila ProteinsHeterozygote DetectionSaccharomyces cerevisiae ProteinsDNA, MitochondrialGenes, SuppressorMicrosatellite RepeatsCell DifferentiationExomePolymorphism, Single NucleotideGenes, FungalDisease Models, AnimalRecombinant ProteinsAbnormalities, MultipleTemperatureGenesImmunohistochemistryIntronsProteins