Article
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.
Nature genetics - 1 Dec 1993
Tanzi R E, Petrukhin K, Chernov I, Pellequer J L, Wasco W, Ross B, Romano D M, Parano E, Pavone L, Brzustowicz L M
Abstract excerpt
Wilson disease (WD) is an autosomal recessive disorder characterized by the toxic accumulation of copper in a number of organs, particularly the liver and brain. As shown in the accompanying paper, linkage disequilibrium & haplotype analysis confirmed the disease locus to a single marker interval at 13q14.3. Here we describe a partial cDNA clone (pWD) which maps to this region and shows a particular 76% amino...
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