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Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy
Jin Park, Young Se Hyun, Ye Jin Kim, Soo Hyun Nam, Sung-hee Kim, Young Bin Hong, Jin-Mo Park, Ki Wha Chung, Byung-Ok Choi
J Clin Neurol.2013;9(4):283-288. Published online 2013 October 31
DOI: http://dx.doi.org/10.3988/jcn.2013.9.4.283
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