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Mutational analysis of ATP7B in north Chinese patients with Wilson disease

✍ Scribed by Li, Kui; Zhang, Wei-Min; Lin, Sheng; Wen, Lu; Wang, Zi-Feng; Xie, Dan; Wei, Min; Qiu, Zheng-Qing; Dai, Yi; Lin, Marie C M; Kung, Hsiang-Fu; Yao, Feng-Xia

Book ID: 120627694
Publisher: Nature Publishing Group
Year: 2012
Tongue: English
Weight: 613 KB
Volume: 58
Category: Article
ISSN: 1435-232X
DOI: 10.1038/jhg.2012.134

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The gene ATP7B responsible for Wilson's disease (WD) produces a protein which is predicted to be a copper-binding P-type ATPase, homologous to the Menkes disease gene (ATP7A). Various mutations of ATP7B have been identified. This study aimed to detect disease-causing mutations, to clarify their freq