Identification of two novel missense WFS1 mutations, H696Y and R703H, in patients with non-syndromic low-frequency sensorineural hearing loss

Non-syndromic low-frequency sensorineural hearing loss (LFSNHL) is an unusual type of hearing loss in which frequencies ≤2000 Hz predominantly are affected. To date, different mutations in two genes, DIAPH1 and WFS1, have been found to be associated with LFSNHL. Here, we report a five-generation Chi...

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Veröffentlicht in:Journal of genetics and genomics 2011-02, Vol.38 (2), p.71-76
Hauptverfasser: Sun, Yi, Cheng, Jing, Lu, Yanping, Li, Jianzhong, Lu, Yu, Jin, Zhanguo, Dai, Pu, Wang, Rongguang, Yuan, Huijun
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Sprache:eng
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