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Article

Association of ATP7B mutation detection rate with biochemical characteristics in Korean patients with Wilson disease.

Annals of clinical and laboratory science - 1 Jan 2010

Park Hyung-Doo, Park Hyun-Kyung, Chung Hae-Sun, Lee Soo-Youn, Kim Jong-Won, Ki Chang-Seok

Abstract excerpt

Wilson disease (WD) is an autosomal recessive disorder caused by mutations in the ATP7B gene, yet many patients have either one mutation, or no mutation. We investigated whether the mutation detection rate is associated with any biochemical characteristics of WD. In a study of 71 patients, we use...

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PMID: 20124325

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20124325-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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