2018•Journal of Human GeneticsRequires access

GNE myopathy in Chinese population: hotspot and novel mutations

Yang Chen, Jianying Xi, Wenhua Zhu, Jie Lin, Sushan Luo, Dongyue Yue, Shuang Cai, Chong Sun, Chongbo Zhao, Satomi Mitsuhashi, Ichizo Nishino, Minjie Xu, Jiahong Lu

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Key concepts: Myopathy, Genetics, Sialic acid, Exon, Mutation, Biology, Phenotype, Gene

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GNE myopathy in Chinese population: hotspot and novel mutations — Research Paper | ScholarLens