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A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family.
Cheng J, Han DY, Dai P, Sun HJ, Tao R, Sun Q, Yan D, Qin W, Wang HY, Ouyang XM, Yang SZ, Cao JY, Feng GY, Du LL, Zhang YZ, Zhai SQ, Yang WY, Liu XZ, He L, Yuan HJ. Cheng J, et al. Among authors: yang sz, yang wy. Clin Genet. 2007 Nov;72(5):471-7. doi: 10.1111/j.1399-0004.2007.00889.x. Epub 2007 Sep 14. Clin Genet. 2007. PMID: 17868390
De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.
Yuan Y, Zhang J, Chang Q, Zeng J, Xin F, Wang J, Zhu Q, Wu J, Lu J, Guo W, Yan X, Jiang H, Zhou B, Li Q, Gao X, Yuan H, Yang S, Han D, Mao Z, Chen P, Lin X, Dai P. Yuan Y, et al. Among authors: yang s. Cell Res. 2014 Nov;24(11):1370-3. doi: 10.1038/cr.2014.77. Epub 2014 Jun 10. Cell Res. 2014. PMID: 24913193 Free PMC article. No abstract available.
[Clinical analysis of 38 cases of petrous apex cholesteatoma].
Chen Z, Wu N, Wang F, Li K, Ren L, Li J, Yang S. Chen Z, et al. Among authors: yang s. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2015 Jan;29(2):114-6. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2015. PMID: 25989655 Chinese.
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