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)
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| Description | scientific article |
| Author/s |
author: Hong-Hee Won Chang-Seok Ki Yeon Lim Suh |
| Publication date | September 2007 |
| Language | English |
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