Mapping, cloning and genetic characterization of the region containing the wilson disease gene

ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper transport which maps 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. Access through your institution Buy or subscribe This is a preview of subscription content,

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1073–1087 (1989). Article  CAS  Google Scholar  Download references AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Department of Psychiatry, 722 W 168th St. Unit 23, New York, New York,

10032, USA K. Petrukhin, I. Chernov, M. Devoto, L. M. Brzustowicz, E. Vitale, D. Matseoane, J. Ott, G. K. Penchaszadeh & T.C. Gilliam * Department of New York State Psychiatric

Institute, 722 W 168th St. Unit 23, New York, New York, 10032, USA K. Petrukhin, I. Chernov, M. Devoto, L. M. Brzustowicz, E. Vitale, D. Matseoane, J. Ott, G. K. Penchaszadeh & T.C.

Gilliam * Department of Biochemistry and Molecular Biophysics, 722 W 168th St. Unit 23, New York, New York, 10032, USA S. G. Fischer, E. Cayanis, J. J. Russo & B. Boukhgalter * Istituto

di Ricerca sulle Talassemie ed Anemie Mediterrannee, Cagliari, Italy M. Pirastu, A. L. Figus, J. Loudianos & A. Cao * Neuroscience Department, Harvard Medical School, Boston,

Massachuestts, USA R.E. Tanzi & W. Wasco * Department of Medicine at Columbia University, 722 W 168th St. Unit 23, New York, New York, 10032, USA I. Sternlieb & I. H. Scheinberg *

The National Center for the Study of Wilson's Disease, New York, N.Y., USA I. Sternlieb & I. H. Scheinberg * St. Luke's/Roosevelt Hospital, New York, N.Y., USA I. Sternlieb 

& I. H. Scheinberg * Research Center of Medical Genetics, Moscow, Russia O. Evgrafov * Pediatric Clinic, University of Catania, Italy E. Parano & L. Pavone * Department of Genetics

and Development, 722 W 168th St. Unit 23, New York, New York, 10032, USA D. Warburton, J. Ott & T.C. Gilliam Authors * K. Petrukhin View author publications You can also search for this

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and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Petrukhin, K., Fischer, S., Pirastu, M. _et al._ Mapping, cloning and genetic characterization of the region containing the Wilson

disease gene. _Nat Genet_ 5, 338–343 (1993). https://doi.org/10.1038/ng1293-338 Download citation * Received: 28 September 1993 * Accepted: 03 November 1993 * Issue Date: 01 December 1993 *

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