Article
[Analysis of ATP2A2 gene mutations in a pedigree and a sporadic case with Darier disease].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2016
Zhao Xiaoyan, Gu Yong, Du Xufeng, Shao Minhua, Luo Hao, Zhu Lude, Zhou Qian, Zhang Guolong
Abstract excerpt
OBJECTIVE: To detect mutations of ATP2A2 gene in a pedigree and a sporadic case with Darier disease (DD) and explore the underlying molecular mechanism. METHODS: Clinical data of the pedigree and the sporadic case were collected. Genomic DNA was extracted from blood samples of four members from the pedigree (including three patients and one healthy member), the sporadic case and 100 healthy controls. PCR was...
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