Article
Mapping, cloning and genetic characterization of the region containing the Wilson disease gene.
Nature genetics - 1 Dec 1993
Petrukhin K, Fischer S G, Pirastu M, Tanzi R E, Chernov I, Devoto M, Brzustowicz L M, Cayanis E, Vitale E, Russo J J
Abstract excerpt
Wilson disease (WD) is an autosomal recessive disorder of copper transport which map to chromosome 13q14.3. In pursuit of the WD gene, we developed yeast artificial chromosome and cosmid contigs, and microsatellite markers which span the WD gene region. Linkage disequilibrium and haplotype analysis of 115 WD families confined the disease locus to a single marker interval. A candidate cDNA clone was mapped to this...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.