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Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.

Journal of human genetics - 1 Jan 2008

Mak Chloe Miu, Lam Ching-Wan, Tam Sidney, Lai Ching-Lung, Chan Lik-Yuen, Fan Sheung-Tat, Lau Yu-Lung, Lai Jak-Yiu, Yuen Patrick, Hui Joannie, Fu Chun-Cheung, Wong Ka-Sing, Mak Wing-Lai, Tze Kong, Tong Sui-Fan, Lau Abby, Leung Nancy, Hui Aric, Cheung Ka-Ming, Ko Chun-Hung, Chan Yiu-Ki, Ma Oliver, Chau Tai-Nin, Chiu Alexander, Chan Yan-Wo

Abstract excerpt

Wilson disease (WD), an autosomal recessive disorder of copper transport, is the most common inherited liver disorder in Hong Kong Chinese. This was the first local study to elucidate the molecular basis and establish an effective DNA-based diagnostic protocol. The ATP7B genes of 65 patients were...

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PMID: 18034201
DOI: 10.1007/s10038-007-0218-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18034201-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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