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Mutations of ATP7B gene in wilson disease in Japan: Identification of nine mutations and lack of clear founder effect in a Japanese population

✍ Scribed by Akihiro Yamaguchi; Dr. Akihiro Matsuura; Shinichiro Arashima; Yuko Kikuchi; Kokichi Kikuchi

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 394 KB
Volume: 11
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.13801101100

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✦ Synopsis

Wilso$disease (WND) is an inborn error of copper metabolism inherited in an autosomal recessive manner. We here report a study of mutations and haplotypes associated with WND in the Japanese.

Hepatic and neurological symptoms of Wilson disease (WND), an inborn error of copper metabolism, are ascribed to copper accumulation, primarily in the liver, and subsequently in the brain and other tissues as a result of overflow of the hepatic copper pool (Bull and Cox, 1994). The WND gene,ATP7B, encodes a P-type ATPase (Bull et al., 1993;Petrukhin et al., 1993; Tanziet al., 1993). Analysis of theATP7B gene revealed a total of 41 disease-causing mutations in WND patients (Figus et al., 1995; Thomas et al.,

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