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1 Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing
Hyung Jun Park, Young-Chul Choi, Seung Min Kim, Se Hoon Kim, Young Bin Hong, Bo Ram Yoon, Ki Wha Chung, Byung-Ok Choi
J Clin Neurol.2015;11(2):183-187.   Published online 2014 November 11     DOI: http://dx.doi.org/10.3988/jcn.2015.11.2.183
      

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