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Article

Rapid detection of mutations in Wilson disease gene ATP7B by DNA strip technology.

Clinical chemistry and laboratory medicine - 1 May 2004

Huster Dominik, Weizenegger Michael, Kress Stefan, Mössner Joachim, Caca Karel

Abstract excerpt

Wilson disease leads to severe hepatic and neurological pathology resulting from cellular copper overload in the respective tissue. Although the affected gene, ATP7B, has been identified, genetic testing is challenging, time-consuming and expensive. Here we describe the development and use of a novel diagnostic test for four frequent mutations (M769V, W779X, H1069Q and P1134P-fs) found in Germany and many other...

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Identifiers

PMID: 15202786
DOI: 10.1515/CCLM.2004.086

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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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