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[Mutation screening and prenatal diagnosis of Wilson's disease by denature high performance liquid chromatography].

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

Du Juan, Gao Bodi, Li Luyun, Li Wen, Lu Guangxiu

Abstract excerpt

OBJECTIVE: To study the clinical application of denature high performance liquid chromatography (DHPLC) technique on mutation screening and prenatal diagnosis for Wilson's disease (WD). METHODS: Genomic DNA of the probands with Wilson's disease and their parents from 6 families was subjected to polymerase chain reaction (PCR) for the 21 exons and the 5' untranslated region of ATP7B gene. Mutation screening of the...

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PMID: 18841564

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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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