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Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss.
Yuan H, Qian Y, Xu Y, Cao J, Bai L, Shen W, Ji F, Zhang X, Kang D, Mo JQ, Greinwald JH, Han D, Zhai S, Young WY, Guan MX. Yuan H, et al. Am J Med Genet A. 2005 Oct 1;138A(2):133-40. doi: 10.1002/ajmg.a.30952. Am J Med Genet A. 2005. PMID: 16152638 Free PMC article.
Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness.
Dai P, Liu X, Han D, Qian Y, Huang D, Yuan H, Li W, Yu F, Zhang R, Lin H, He Y, Yu Y, Sun Q, Qin H, Li R, Zhang X, Kang D, Cao J, Young WY, Guan MX. Dai P, et al. Biochem Biophys Res Commun. 2006 Feb 3;340(1):194-9. doi: 10.1016/j.bbrc.2005.11.156. Biochem Biophys Res Commun. 2006. PMID: 16375862 Clinical Trial.
254 results