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