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Article

Molecular analysis and diagnosis in Japanese patients with Wilson's disease.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Aug 1999

Shimizu N, Nakazono H, Takeshita Y, Ikeda C, Fujii H, Watanabe A, Yamaguchi Y, Hemmi H, Shimatake H, Aoki T

Abstract excerpt

BACKGROUND: Wilson's disease is characterized by the toxic accumulation of copper in the liver, brain, cornea and other organs. It is caused by both impaired excretion via the bile and impaired incorporation of copper into ceruloplasmin in the liver. The Wilson's disease gene (ATP7B) has been cloned as a putative copper-transporting P-type ATPase gene. We therefore analysed mutations of ATP7B in Japanese patients...

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Identifiers

PMID: 10453196
DOI: 10.1046/j.1442-200x.1999.01092.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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