ElastinPoint MutationMutation, MissenseMutationTropoelastinDesmosineFrameshift MutationGerm-Line MutationElastic TissuePedigreeIsodesmosineMutation RateExonsBase SequenceMolecular Sequence DataPancreatic ElastaseHeterozygoteAmino Acid SubstitutionProtein-Lysine 6-OxidasePolymerase Chain ReactionDNA Mutational AnalysisAllelesAmino Acid SequencePolymorphism, Single-Stranded ConformationalMutagenesis, Site-DirectedLigamentsGenotypeCollagenCodon, NonsenseHomozygoteMutagenesisSequence Analysis, DNACutis LaxaAortic Stenosis, SupravalvularGenes, RecessiveGenes, DominantPhenotypeDNA PrimersProtein Structure, TertiarySequence DeletionGenetic TestingSuppression, GeneticAortaBinding SitesRNA, MessengerChromosome MappingEscherichia coliCell LineModels, MolecularSequence Homology, Amino AcidDNACodonGene DeletionCells, CulturedDNA-Binding ProteinsCloning, MolecularProtein BindingMatrix Metalloproteinase 12Williams SyndromeFibroblastsGenetic Complementation TestElasticitySequence AlignmentFounder EffectTranscription FactorsGenetic LinkageGenes, p53SyndromeGenetic Predisposition to DiseaseBacterial ProteinsTranscription, GeneticMutant ProteinsExtracellular MatrixSaccharomyces cerevisiaeTransfectionRecombinant ProteinsMembrane ProteinsConsanguinityConnective TissuePlasmidsModels, GeneticPolymorphism, GeneticAminopropionitrileMicrofibrilsPromoter Regions, GeneticKineticsExtracellular Matrix ProteinsProtein ConformationGenes, LethalNuclear ProteinsIntronsHeterozygote DetectionExomeDNA, MitochondrialProto-Oncogene Proteins B-rafGenetic VariationGenes, BRCA1Mutagenesis, InsertionalCarrier ProteinsFamily Health