Article
Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry.
Human mutation - 1 Sept 2005
Cox D W, Prat L, Walshe J M, Heathcote J, Gaffney D
Abstract excerpt
Wilson disease (WND), an autosomal recessive disorder of copper transport, shows wide genotypic and phenotypic variability, with hepatic and/or neurological symptoms. The WND gene, ATP7B, encodes a copper transporting ATPase that is involved in the transport of copper into the plasma protein ceruloplasmin, and in the excretion of copper from the liver. ATP7B mutations result in copper storage in liver and brain....
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