Article
Disturbed copper transport in humans. Part 2: mutations of the ATP7B gene lead to Wilson disease (WD).
Cellular and molecular biology (Noisy-le-Grand, France) - 1 Jan 2001
Seidel J, Caca K, Schwab S G, Berr F, Wildenauer D B, Mentzel H J, Horn N, Kauf E
Abstract excerpt
Mutations in the Wilson disease gene ATP7B, a P-type ATPase, are responsible for copper accumulation in the liver and other organs leading to Wilson disease (WD, OMIM 277900). Clinical manifestations of Wilson disease (WD) include chronic liver disease, acute hepatic failure or neuropsychiatric diseases. Since potent medical treatments are available to prevent disabling residual symptoms, early diagnosis is...
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