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)

✍ Scribed by 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

• Book ID: 117855231
• Publisher: American Society of Human Genetics
• Year: 2007
• Tongue: English
• Weight: 552 KB
• Volume: 81
• Category: Article
• ISSN: 0002-9297
• DOI: 10.1086/519529