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)
The American Journal of Human Genetics2007Vol. 81(3), pp. 552–558
Citations Over TimeTop 10% of 2007 papers
Hee‐Jin Kim, Kwang-Min Sohn, Michael E. Shy, Karen 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
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