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Article

Six novel ATP7B mutations in Thai patients with Wilson disease.

European journal of medical genetics - 1 Jan 2000

Panichareon Benjaporn, Taweechue Krailerk, Thongnoppakhun Wanna, Aksornworanart Monthikan, Pithukpakorn Manop, Yenchitsomanus Pa-Thai, Limwongse Chanin, Limjindaporn Thawornchai

Abstract excerpt

WD is an autosomal recessive disorder of copper transport resulting in excessive copper deposition in the liver and brain. It is caused by defects of ATP7B encoding a copper transporting P-type ATPase. To identify the mutations in ATP7B in Thai patients with WD, DHPLC analysis was applied to dete...

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Identifiers

PMID: 21034864
DOI: 10.1016/j.ejmg.2010.10.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21034864-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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