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: yan d.
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
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