Article
Wilson disease: new insights into pathogenesis, diagnosis, and future therapy.
Current gastroenterology reports - 1 Feb 2005
Schilsky Michael L
Abstract excerpt
Wilson disease is caused by disease-specific mutations of the copper transporting ATPase, ATP7B. The diagnosis is established by clinical and biochemical means, though advances in molecular diagnostics will someday permit de novo diagnosis. The patient may present with hepatic, neurologic, or psy...
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