Article
[Clinical and genetic study of Wilson's disease in affected twins and siblings].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2013
Cheng Nan, Wang Xun, Yu Xuen, Zhou Zhihua, Gao Mingwei, Rao Rao, Hu Jiyuan, Yang Renmin, Han Yongzhu
Abstract excerpt
OBJECTIVE: To study the clinical and genetic characteristics of twins and siblings affected with Wilson's disease (WD). METHODS: Clinical data and blood samples were collected from the subjects after informed consent was obtained. Genomic DNA was extracted and potential mutations in the exons in ATP7B gene were detected with PCR-DNA sequencing. Short tandem repeat (STR) genotyping was performed to determine the...
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