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[Identification of two novel PRRT2 gene variants in two children with paroxysmal kinesigenic dyskinesia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jan 2020

Yu Houming, Jiang Songtao, Wang Kang

Abstract excerpt

OBJECTIVE: To analyze variants of PRRT2 gene in two children with paroxysmal kinesigenic dyskinesia. METHODS: Genomic DNA of the two children and their parents was extracted from peripheral venous blood samples. All exons and their flanking regions of the PRRT2 gene were subjected to PCR and Sanger sequencing. RESULTS: The two children were found to respectively harbor a c.282dupA and a c.715_716dupCC variant in...

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PMID: 31922585
DOI: 10.3760/cma.j.issn.1003-9406.2020.01.002

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