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Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees.
Chen J, Yang L, Yang A, Zhu Y, Zhao J, Sun D, Tao Z, Tang X, Wang J, Wang X, Tsushima A, Lan J, Li W, Wu F, Yuan Q, Ji J, Feng J, Wu C, Liao Z, Li Z, Greinwald JH, Lu J, Guan MX. Chen J, et al. Gene. 2007 Oct 15;401(1-2):4-11. doi: 10.1016/j.gene.2007.06.009. Epub 2007 Jun 20. Gene. 2007. PMID: 17698299 Free PMC article.
The ND4 G11696A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation in a four-generation Chinese family.
Liao Z, Zhao J, Zhu Y, Yang L, Yang A, Sun D, Zhao Z, Wang X, Tao Z, Tang X, Wang J, Guan M, Chen J, Li Z, Lu J, Guan MX. Liao Z, et al. Biochem Biophys Res Commun. 2007 Oct 26;362(3):670-6. doi: 10.1016/j.bbrc.2007.08.034. Epub 2007 Aug 15. Biochem Biophys Res Commun. 2007. PMID: 17723226 Free PMC article.