Article
New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.
Genetic testing - 1 Mar 2008
Davies Lisa Prat, Macintyre Georgina, Cox Diane W
Abstract excerpt
Wilson disease (WND), an autosomal recessive disorder of copper transport with a broad range of genotypic and phenotypic characteristics, results from mutations in the ATP7B gene. ATP7B encodes a copper transporting P-type ATPase involved in the transport of copper into the plasma protein ceruloplasmin, and for excretion of copper from the liver. Defects in ATP7B lead to copper storage in liver, brain and kidney....
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