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

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