【摘 要】
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Background: Mutations in proline-rich transmembrane protein 2 (PRRT2) are a cause of paroxysmal kinesigenic dyskinesia (PKD).In this study, we investigated the PRRT2 gene mutation in a Chinese Han fam
【机 构】
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Deparment of Medical Genetics,School of Basic Medicine Sciences,Southern Medical University,Guangzho
【出 处】
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2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议
论文部分内容阅读
Background: Mutations in proline-rich transmembrane protein 2 (PRRT2) are a cause of paroxysmal kinesigenic dyskinesia (PKD).In this study, we investigated the PRRT2 gene mutation in a Chinese Han family with PKD and study the pathogenesis of the mutation with PRRT2 gene.Method: Peripheral venous blood was taken from the family members.Sanger sequencing was used for novel mutation sequencing.For the pathogenesis with the novel mutation was analyzed by bioinformatics, real-time PCR, subcellular localization and Westem blot.
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