Article
Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients.
Journal of molecular medicine (Berlin, Germany) - 1 Sept 2004
Stuehler Bettina, Reichert Juergen, Stremmel Wolfgang, Schaefer Mark
Abstract excerpt
Wilson disease is a human disorder of copper metabolism resulting in toxic copper accumulation. Patients present with a high clinical variability, even when sharing identical mutations. MURR1, the gene causing canine copper toxicosis in Bedlington terriers, maps to chromosome 2 in humans, a region different to the Wilson gene locus. MURR1 might influence human copper metabolism and the clinical presentation of...
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