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) by 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 in American journal of human genetics (2007).

[PMID: 17701900] PubMed

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