Article
Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.
American journal of human genetics - 1 Aug 1997
Shah A B, Chernov I, Zhang H T, Ross B M, Das K, Lutsenko S, Parano E, Pavone L, Evgrafov O, Ivanova-Smolenskaya I A, Annerén G, Westermark K, Urrutia F H, Penchaszadeh G K, Sternlieb I, Scheinberg I H, Gilliam T C, Petrukhin K
Abstract excerpt
Wilson disease (WD) is an autosomal recessive disorder characterized by toxic accumulation of copper in the liver and subsequently in the brain and other organs. On the basis of sequence homology to known genes, the WD gene (ATP7B) appears to be a copper-transporting P-type ATPase. A search for ATP7B mutations in WD patients from five population samples, including 109 North American patients, revealed 27 distinct...
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