Article
Genotype-phenotype interactions in Wilson's disease: insight from an Icelandic mutation.
European journal of gastroenterology & hepatology - 1 Apr 2001
Palsson R, Jonasson J G, Kristjansson M, Bodvarsson A, Goldin R D, Cox D W, Olafsson S
Abstract excerpt
Wilson's disease, an autosomal recessive disorder of copper transport, usually presents with symptoms from the liver or central nervous system. Rarely, the initial manifestation is fulminant hepatic failure. The abnormal gene (ATP7B) is located on chromosome 13q and encodes a copper-transporting ATPase. A large number of mutations have been reported. We describe a previously healthy 16-year-old girl who presented...
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