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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.
Genome-widely significant evidence of linkage of schizophrenia to chromosomes 2p24.3 and 6q27 in an SNP-Based analysis of Korean families.
Hong KS, Won HH, Cho EY, Jeun HO, Cho SS, Lee YS, Park DY, Jang YL, Choi KS, Lee D, Kim MJ, Kim S, Han WS, Kim JW. Hong KS, et al. Among authors: kim s, kim mj, kim jw. Am J Med Genet B Neuropsychiatr Genet. 2009 Jul 5;150B(5):647-52. doi: 10.1002/ajmg.b.30884. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 18980222
8,705 results