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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).
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. Kim HJ, et al. Among authors: kim sh, kim bj, kim jw. Am J Hum Genet. 2007 Sep;81(3):552-8. doi: 10.1086/519529. Epub 2007 Jun 29. Am J Hum Genet. 2007. PMID: 17701900 Free PMC article.
Is International Prognostic Scoring System (IPSS) still standard in predicting prognosis in patients with myelodysplastic syndrome? External validation of the WHO Classification-Based Prognostic Scoring System (WPSS) and comparison with IPSS.
Park MJ, Kim HJ, Kim SH, Kim DH, Kim SJ, Jang JH, Kim K, Kim WS, Jung CW. Park MJ, et al. Among authors: kim hj, kim dh, kim sh, kim sj, kim ws, kim k. Eur J Haematol. 2008 Nov;81(5):364-73. doi: 10.1111/j.1600-0609.2008.01124.x. Epub 2008 Jul 10. Eur J Haematol. 2008. PMID: 18637029
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