Inherited Peripheral Neuropathies Mutation Database

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Title 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).
Authors Kim HJ, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW
Reference Am J Hum Genet 81: 552-558, 2007 (PubMed ID: 17701900 )
PRPS1: (Glu43Asp) (Met115Thr)

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