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Article

Haplotype and mutation analysis in Japanese patients with Wilson disease.

American journal of human genetics - 1 Jun 1997

Nanji M S, Nguyen V T, Kawasoe J H, Inui K, Endo F, Nakajima T, Anezaki T, Cox D W

Abstract excerpt

Wilson disease (WD), an autosomal recessive disorder of copper transport, is characterized by impaired biliary excretion and by impaired incorporation of copper into ceruloplasmin. Toxic accumulation of copper causes tissue damage, primarily in the liver, brain, and kidneys. The gene for WD (ATP7...

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Identifiers

PMID: 9199563
DOI: 10.1086/515459
PMCID: PMC1716137

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-9199563-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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