Exome sequencing reveals a novel PRPS1 mutation in a family with CMTX5 without optic atrophy

Journal of Clinical Neurology (Korea)

Volumn 9, Issue 4, 2013, Pages 283-288

  Park, Jin ^a   Hyun, Young Se ^b   Kim, Ye Jin ^b   Nam, Soo Hyun ^b   Kim, Sung hee ^a   Hong, Young Bin ^c   Park, Jin Mo ^a   Chung, Ki Wha ^b   Choi, Byung Ok ^c  

^a Ewha Womans University School of Medicine   (South Korea)

^b Kongju National University   (South Korea)

^c Sungkyunkwan University School of Medicine   (South Korea)

Author keywords

Charcot marie tooth disease type X5; Deafness; Exome; Mutation; Phosphoribosyl pyrophosphate synthetase I gene

Indexed keywords

EID: 84885026613     PISSN: 17386586     EISSN: 20055013     Source Type: Journal    
DOI: 10.3988/jcn.2013.9.4.283     Document Type: Article

References (15)

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