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Article

[Effect of the mutation of promoter region in Wilson disease ATP7B gene on the expression of reporter gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2005

Yang Chun-shui, Liang Xiu-ling, Li Jian-ying, Yan Zhen-wen, Huang Fan

Abstract excerpt

OBJECTIVE: To find out the relationship between mutation of ATP7B gene promoter region and pathogenesis of Wilson disease(WD). METHODS: Two of 48 WD patients presented C-->T base substitution mutations at the position -183. DNA sequences of the promoter region from normal and mutant samples were separated. The fragments containing the promoter region were cloned upstream of the luciferase. Luciferase activity was...

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PMID: 16215951

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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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