Article
A novel deletion mutation within the carboxyl terminus of the copper-transporting ATPase gene causes Wilson disease.
Journal of the neurological sciences - 1 Oct 2000
Majumdar R, Al Jumah M, Al Rajeh S, Fraser M, Al Zaben A, Awada A, Al Traif I, Paterson M
Abstract excerpt
In patients with Wilson disease (WD), an autosomal recessive disorder, toxic accumulation of copper results in fatal liver disease and irreversible neuronal degeneration. ATP7B, the gene mutated in WD, contains 21 exons and encodes a copper-transporting ATPase. In this study, all exons of the ATP7B gene of nine WD patients were screened for alterations by conventional mutation detection enhancement (MDE)...
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