Article
[Application of targeted capture technology and next generation sequencing in molecular diagnosis of inherited myopathy].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Oct 2015
Fu Xiaona, Liu Aijie, Yang Haipo, Wei Cuijie, Ding Juan, Wang Shuang, Wang Jingmin, Yuan Yun, Jiang Yuwu, Xiong Hui
Abstract excerpt
OBJECTIVE: To elucidate the usefulness of next generation sequencing for diagnosis of inherited myopathy, and to analyze the relevance between clinical phenotype and genotype in inherited myopathy. METHOD: Related genes were selected for SureSelect target enrichment system kit (Panel Version 1 and Panel Version 2). A total of 134 patients who were diagnosed as inherited myopathy clinically underwent next...
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