Abstract:
: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 interval which, as shown in the accompanying paper, is very likely the WD gene. Our haplotype and mutation analyses predict that approximately half of all WD mutations will be rare in the American and Russian populations.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Petrukhin K,Fischer SG,Pirastu M,Tanzi RE,Chernov I,Devoto M,Brzustowicz LM,Cayanis E,Vitale E,Russo JJdoi
10.1038/ng1293-338subject
Has Abstract,Author List Incompletepub_date
1993-12-01 00:00:00pages
338-43issue
4eissn
1061-4036issn
1546-1718journal_volume
5pub_type
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