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[Rapid detection of common ATP7B mutations in Wilson disease by high resolution melting analysis].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2008

Zhao Xiuli, Liu Yanshan, Huang Shangzhi, Meng Yan, Sun Miao, Yang Wei, Zhang Xue

Abstract excerpt

OBJECTIVE: To detect the most prevalent mutations, R778L and P992L of ATP8B gene, in Chinese Wilson disease(WD) patients by high resolution melting (HRM) analysis after polymerase chain reaction (PCR). METHODS: Genomic DNA was extracted from peripheral blood samples obtained from 30 cases of WD by the standard phenol/chloroform method. DNA fragments encompassing ATP7B exons 8 and 13 were produced by PCR...

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PMID: 18841562

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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