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

doi:10.1038/ng1293-338

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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 analys...

Topics

Base Sequence
Chromosomes, Human, Pair 13
Cosmids
Family
Female
Genetic Markers
Genomic Library
Genotype
Haplotypes
Hepatolenticular Degeneration
Humans
Linkage Disequilibrium
Male
Molecular Sequence Data
Mutation

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Open in PubMed

Identifiers

PMID: 8298640
DOI: 10.1038/ng1293-338

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8298640-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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