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Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.

Hepatology (Baltimore, Md.) - 1 Nov 2010

Wan Lei, Tsai Chang-Hai, Hsu Chin-Moo, Huang Chin-Chang, Yang Chih-Chao, Liao Chiu-Chu, Wu Chin-Ching, Hsu Yu-An, Lee Cheng-Chun, Liu Su-Ching, Lin Wei-De, Tsai Fuu-Jen

Abstract excerpt

UNLABELLED: Wilson disease is a copper metabolism disorder caused by mutations in ATP7B, a copper-transporting adenosine triphosphatase. A molecular diagnosis was performed on 135 patients with Wilson disease in Taiwan. We identified 36 different mutations, eight of which were novel: five missense mutations (Ser986Phe, Ile1348Asn, Gly1355Asp, Met1392Lys, and Ala1445Pro), one deletion (2810delT) in the coding...

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PMID: 20931554
DOI: 10.1002/hep.23865

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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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