Article
[Analysis of parental origin of de novo SCN1A mutations in Dravet syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2015
Sun Huihui, Zhang Yuehua, Xu Xiaojing, Liu Xiaoyan, Wu Xiru
Abstract excerpt
OBJECTIVE: To analyze the parental origin of de novo SCN1A mutations in 22 patients with Dravet syndrome (DS). METHODS: Clinical data and peripheral blood DNA of the patients and their parents were collected. SCN1A gene mutation was screened by polymerase chain reaction (PCR) and Sanger sequencing. For de novo mutations, allele-specific-PCR (AS-PCR) was used to determine their parental origins. Should the...
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