Mutations inPRPS1,Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5)


Hee-Jin Kim,Kwang-Min Sohn,Michael E. Shy,Karen M. Krajewski,Miok Hwang,June-Hee Park,Sue-Yon Jang,Hong-Hee Won,Byung-Ok Choi,Sung Hwa Hong,Byoung-Joon Kim,Yeon-Lim Suh,Chang-Seok Ki,Soo-Youn Lee,Sun-Hee Kim,Jong-Won Kim


The American Journal of Human Genetics




September 2007

Copyright © 2007, Elsevier

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