Point MutationPhenotypeMutationMutation, MissenseMolecular Sequence DataBase SequenceFrameshift MutationPedigreeAmino Acid SequenceGerm-Line MutationDNA Mutational AnalysisPolymerase Chain ReactionExonsAmino Acid SubstitutionAllelesMutagenesis, Site-DirectedHeterozygoteGenotypeMutagenesisPolymorphism, Single-Stranded ConformationalSequence Analysis, DNAMutation RateHomozygoteSequence DeletionCell LineDNA PrimersProtein Structure, TertiaryGene DeletionSequence Homology, Amino AcidEscherichia coliChromosome MappingBinding SitesDNA-Binding ProteinsCloning, MolecularTranscription FactorsGenetic Complementation TestCodon, NonsenseGenes, DominantCodonModels, MolecularSuppression, GeneticGenes, RecessivePlasmidsProtein BindingSequence AlignmentDNATransfectionSaccharomyces cerevisiaeBacterial ProteinsMembrane ProteinsRNA, MessengerTranscription, GeneticGenetic TestingPromoter Regions, GeneticMutant ProteinsSignal TransductionGenes, p53Nuclear ProteinsModels, GeneticGenetic VariationGenetic LinkageDNA, MitochondrialSyndromeCells, CulturedMutagenesis, InsertionalPolymorphism, GeneticRecombinant ProteinsCarrier ProteinsGenetic Predisposition to DiseaseGenes, LethalIntronsCrosses, GeneticGenes, BacterialStructure-Activity RelationshipEthylnitrosoureaRecombinant Fusion ProteinsMice, TransgenicRecombination, GeneticMice, Inbred C57BLProtein ConformationGene Expression RegulationDNA, NeoplasmGenesSaccharomyces cerevisiae ProteinsGene ExpressionMice, Mutant StrainsRestriction MappingPolymorphism, Restriction Fragment LengthKineticsConserved SequenceReverse Transcriptase Polymerase Chain ReactionHeterozygote DetectionGenes, FungalProteinsTemperatureGenes, SuppressorDrosophila ProteinsCOS CellsFounder EffectConsanguinity