HeterozygotePoint MutationMutation, MissenseMutationHeterozygote DetectionHomozygoteFrameshift MutationPedigreeAllelesGerm-Line MutationGenotypeBase SequenceExonsDNA Mutational AnalysisPolymerase Chain ReactionPhenotypeMolecular Sequence DataMutation RateAmino Acid SubstitutionGenes, RecessivePolymorphism, GeneticGenes, DominantPolymorphism, Single-Stranded ConformationalGene FrequencyCodon, NonsenseAmino Acid SequenceSequence Analysis, DNAGenetic TestingMutagenesis, Site-DirectedMutagenesisGenetic Predisposition to DiseaseChromosome MappingGenes, LethalSequence DeletionGenetic VariationDNA PrimersGenetic LinkageModels, GeneticCrosses, GeneticDNAGene DeletionCodonJewsFounder EffectConsanguinityGenetic Complementation TestSuppression, GeneticProtein Structure, TertiaryDNA-Binding ProteinsSyndromeThalassemiaCell LineEscherichia coliMice, Mutant StrainsMembrane ProteinsModels, MolecularMicrosatellite RepeatsTranscription FactorsSequence Homology, Amino AcidPolymorphism, Restriction Fragment LengthBinding SitesPolymorphism, Single NucleotideGenes, p53Cloning, MolecularFamily HealthHyperlipoproteinemia Type IGenesIntronsSelection, GeneticRecombination, GeneticSequence AlignmentGenetic MarkersProtein BindingHemoglobin A2RNA, MessengerEthylnitrosoureaCarrier ProteinsMutagenesis, InsertionalSaccharomyces cerevisiaeAtaxia TelangiectasiaHyperlipoproteinemia Type IINuclear ProteinsTransfectionAge of OnsetTay-Sachs DiseaseMutant ProteinsPromoter Regions, GeneticPenetranceEye ProteinsHemoglobins, AbnormalMice, KnockoutTranscription, GeneticBacterial ProteinsCystinuriaPlasmidsAsian Continental Ancestry GroupDNA, MitochondrialDrosophila melanogasterRetinitis PigmentosaMice, Inbred C57BL