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[Screening of genetic mutations in a Chinese pedigree affected with hypokalemic periodic paralysis].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2018

Guo Manli, Zhang Guowen, Ma Shaogang, Xu Tie, Peng Yigen

Abstract excerpt

OBJECTIVE To screen for mutations in a Chinese pedigree affected with hypokalemic periodic paralysis. METHODS The proband and nine family members were enrolled for the analysis of CACNA1S and SCN4A gene mutations. Genomic DNA was extracted from peripheral blood samples. The coding regions of the two genes were amplified with PCR and subjected to Sanger sequencing. Potential impact of suspected mutations was...

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PMID: 29419865
DOI: 10.3760/cma.j.issn.1003-9406.2018.01.016

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