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Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5)

Author:

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

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

September 2007

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