Point MutationMutation, MissenseAge FactorsMutationFrameshift MutationGerm-Line MutationCase-Control StudiesPedigreeMutation RateGenotypeExonsBase SequenceHeterozygoteAmino Acid SubstitutionReference ValuesPolymerase Chain ReactionDNA Mutational AnalysisMolecular Sequence DataAllelesPolymorphism, Single-Stranded ConformationalTime FactorsRisk FactorsMutagenesis, Site-DirectedAmino Acid SequenceCodon, NonsenseHomozygoteMutagenesisSequence Analysis, DNAProspective StudiesGenes, RecessiveSex FactorsSequence DeletionGenes, DominantGenetic TestingProtein Structure, TertiaryPregnancyDNA PrimersEscherichia coliSuppression, GeneticPhenotypeModels, MolecularCohort StudiesChromosome MappingPrevalenceCodonTestosteroneInfant, NewbornAgingPolycystic Ovary SyndromeCell LineBinding SitesFollow-Up StudiesSequence Homology, Amino AcidDNA-Binding ProteinsGenetic Complementation TestGene DeletionFounder EffectTranscription FactorsBody WeightGenes, p53SyndromeCloning, MolecularAnalysis of VarianceRegression AnalysisProtein BindingSequence AlignmentDNAMutant ProteinsGenetic LinkageBody CompositionBody Mass IndexCross-Sectional StudiesGenetic Predisposition to DiseaseSaccharomyces cerevisiaeMembrane ProteinsSex CharacteristicsOxygen ConsumptionConsanguinityBacterial ProteinsOccupational DiseasesPlasmidsModels, GeneticHeart RateAfrican Continental Ancestry GroupRetrospective StudiesIncidenceEuropean Continental Ancestry GroupBlood GlucoseTransfectionGenes, LethalPrognosisNuclear ProteinsHeterozygote DetectionExomePolymorphism, GeneticDNA, MitochondrialProto-Oncogene Proteins B-rafDiabetes Mellitus, Type 1Genes, BRCA1Mutagenesis, Insertional