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Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.
Liu X, Han D, Li J, Han B, Ouyang X, Cheng J, Li X, Jin Z, Wang Y, Bitner-Glindzicz M, Kong X, Xu H, Kantardzhieva A, Eavey RD, Seidman CE, Seidman JG, Du LL, Chen ZY, Dai P, Teng M, Yan D, Yuan H. Liu X, et al. Among authors: kong x. Am J Hum Genet. 2010 Jan;86(1):65-71. doi: 10.1016/j.ajhg.2009.11.015. Am J Hum Genet. 2010. PMID: 20021999 Free PMC article.
[New progress of serial analysis of gene expression].
Li J, Chen YG, Kong XY. Li J, et al. Among authors: kong xy. Sheng Wu Gong Cheng Xue Bao. 2001 Nov;17(6):613-6. Sheng Wu Gong Cheng Xue Bao. 2001. PMID: 11910750 Review. Chinese.
Novel mutations in the IRF6 gene for Van der Woude syndrome.
Wang X, Liu J, Zhang H, Xiao M, Li J, Yang C, Lin X, Wu Z, Hu L, Kong X. Wang X, et al. Among authors: kong x. Hum Genet. 2003 Oct;113(5):382-6. doi: 10.1007/s00439-003-0989-2. Epub 2003 Aug 14. Hum Genet. 2003. PMID: 12920575
8,935 results