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2005•Journal of Human GeneticsOpen access

Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles

Byoung Joon Kim, Chang‐Seok Ki, Jong‐Won Kim, Duk Hyun Sung, Young‐Chul Choi, Seung Hyun Kim

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Key concepts: Myopathy, Genetics, Compound heterozygosity, Gene, Mutation, Genetic analysis, Biology, Allele

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