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Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.
Liu, Xuezhong; Han, Dongyi; Li, Jianzhong; Han, Bing; Ouyang, Xiaomei; Cheng, Jing; Li, Xu; Jin, Zhanguo; Wang, Youqin; Bitner-Glindzicz, Maria; Kong, Xiangyin; Xu, Heng; Kantardzhieva, Albena; Eavey, Roland D; Seidman, Christine E; Seidman, Jonathan G; Du, Li L; Chen, Zheng-Yi; Dai, Pu; Teng, Maikun; Yan, Denise; Yuan, Huijun.
Affiliation
  • Liu X; Department of Otolaryngology, University of Miami, FL 33136, USA.
Am J Hum Genet ; 86(1): 65-71, 2010 Jan.
Article in En | MEDLINE | ID: mdl-20021999
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ribose-Phosphate Pyrophosphokinase / Chromosomes, Human, X / Hearing Loss, Sensorineural / Mutation Limits: Adult / Aged / Animals / Female / Humans / Male / Middle aged Language: En Journal: Am J Hum Genet Year: 2010 Type: Article Affiliation country: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ribose-Phosphate Pyrophosphokinase / Chromosomes, Human, X / Hearing Loss, Sensorineural / Mutation Limits: Adult / Aged / Animals / Female / Humans / Male / Middle aged Language: En Journal: Am J Hum Genet Year: 2010 Type: Article Affiliation country: United States