Point MutationPresenilin-1Mutation, MissenseMutationPresenilin-2Frameshift MutationGerm-Line MutationPedigreeAlzheimer DiseaseExonsDNA Mutational AnalysisMutation RateBase SequenceHeterozygoteAllelesAmino Acid SubstitutionMolecular Sequence DataPolymerase Chain ReactionGenotypeAmyloid beta-Protein PrecursorGenes, DominantParaparesis, SpasticPolymorphism, Single-Stranded ConformationalGenetic TestingMutagenesis, Site-DirectedMembrane ProteinsAmino Acid SequenceAge of OnsetCodon, NonsenseHomozygoteMutagenesisSequence Analysis, DNAPhenotypePresenilinsGenes, RecessiveAmyloid Precursor Protein SecretasesFamily HealthGenetic Predisposition to DiseaseCell LineSequence DeletionProtein Structure, TertiaryDNA PrimersEscherichia coliSuppression, GeneticModels, MolecularPenetranceChromosome MappingCodonAmyloid beta-PeptidesBinding SitesSequence Homology, Amino AcidDNA-Binding ProteinsGenetic Complementation TestDysarthriaGene FrequencyGene DeletionMice, TransgenicFounder EffectTranscription FactorsGenes, p53SyndromeCloning, Moleculartau ProteinsProtein BindingSequence AlignmentDNAMutant ProteinsGenetic LinkageSaccharomyces cerevisiaeConsanguinityBacterial ProteinsPlasmidsModels, GeneticTransfectionBrainGenes, LethalSignal TransductionNuclear ProteinsHeterozygote DetectionExomePolymorphism, GeneticDNA, MitochondrialProto-Oncogene Proteins B-rafGenes, BRCA1Mutagenesis, InsertionalTranscription, GeneticCarrier ProteinsPromoter Regions, GeneticDNA, NeoplasmGenetic VariationIntronsGenes, BacterialProtein ConformationRNA, MessengerDisease Models, AnimalCells, CulturedRecombination, GeneticReceptors, NotchBlotting, WesternMicrosatellite Repeats