Molecular Diagnosis of Wilson Disease
Butler P, McIntyre N, Mistry P. Molecular Diagnosis of Wilson Disease. Molecular Genetics And Metabolism 2001, 72: 223-230. PMID: 11243728, DOI: 10.1006/mgme.2000.3143.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine TriphosphatasesAdolescentAdultCarrier ProteinsCation Transport ProteinsChildChild, PreschoolCopper-transporting ATPasesEthnicityFemaleHepatolenticular DegenerationHeterozygoteHumansMaleMutationPolymorphism, Single-Stranded ConformationalSequence Analysis, DNAConceptsDisease allelesMolecular diagnosisGenetic diagnosisATP7B geneExtreme diversityGenesConformation polymorphism analysisMutationsVariable disease manifestationsDNA analysisWD phenotypeBiochemical criteriaPolymorphism analysisNovel mutationsAllelesCommon mutationsWilson's diseaseWild-type statusDiversityPhenotypeSimilar ethnicityHeterozygote carriersH1069QRegionFamily