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Article

Late neurological presentations of Wilson disease patients in French population and identification of 8 novel mutations in the ATP7B gene.

Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS) - 1 Jan 2007

Chappuis Philippe, Callebert Jacques, Quignon Valérie, Woimant France, Laplanche Jean-Louis

Abstract excerpt

Wilson disease (WD) is an autosomal recessive disorder of copper biliary excretion caused by an impaired function of ATP7B, a metal-transporting P-type ATPase encoded by WD gene. It results in copper accumulation, mostly in liver and brain tissues. Mutation analysis was carried out on 11 WD French unrelated patients presenting a predominant neurological form of this illness. SSCP and dHPLC analysis followed by...

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PMID: 17317524
DOI: 10.1016/j.jtemb.2006.11.002

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