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Article

Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples.

European journal of human genetics : EJHG - 1 Dec 2000

Olsson C, Waldenström E, Westermark K, Landegre U, Syvänen A C

Abstract excerpt

Wilson disease is an autosomal recessive disorder characterised by toxic accumulation of copper in liver, brain and other organs. The disorder is caused by mutations in the ATP7B gene, encoding a copper transporting P-type ATPase. Based on the number of known patients with this diagnosis in Sweden, the prevalence can be estimated to 1 in 250,000 to 300,000, whereas the prevalence of Wilson disease has been...

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PMID: 11175281
DOI: 10.1038/sj.ejhg.5200566

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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