Article
Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.
Human mutation - 1 Apr 2004
Deguti Marta M, Genschel Janine, Cancado Eduardo L R, Barbosa Egberto R, Bochow Bettina, Mucenic Marcos, Porta Gilda, Lochs Herbert, Carrilho Flair J, Schmidt Hartmut H-J
Abstract excerpt
Wilson disease (WD) is a rare inherited autosomal recessive disorder caused by a defect in a metal transporting P-type ATPase, resulting in copper overload in various tissues and cells. The aim was to assess both the phenotype in Brazilian WD patients and the corresponding ATP7B genotype. Sixty subjects belonging to 46 pedigrees diagnosed as WD were included in this study. Direct sequencing of all 21 exons within...
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