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Nat Genet. 1993 Dec;5(4):344-50.

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.

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  • 1Neurology Department, Harvard Medical School, Boston, Massachusetts 02114.

Abstract

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 acid homology to the Menkes disease gene, Mc1. The predicted functional properties of the pWD gene together with its strong homology to Mc1, genetic mapping data and identification of four independent disease-specific mutations, provide convincing evidence that pWD is the Wilson disease gene.

PMID:
8298641
[PubMed - indexed for MEDLINE]
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