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Article

Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease.

BMC gastroenterology - 18 Jan 2010

Merle Uta, Weiss Karl Heinz, Eisenbach Christoph, Tuma Sabine, Ferenci Peter, Stremmel Wolfgang

Abstract excerpt

BACKGROUND: Mutations in the gene ATP7B cause Wilson disease, a copper storage disorder with a high phenotypic and genetic heterogeneity. We aimed to evaluate whether 'severe' protein-truncating ATP7B mutations (SMs) are associated with low serum ceruloplasmin oxidase activities and an early age...

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Identifiers

PMID: 20082719
DOI: 10.1186/1471-230X-10-8
PMCID: PMC2845088

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20082719-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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