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Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNA(Ser(UCN)) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss.
Yuan H, Chen J, Liu X, Cheng J, Wang X, Yang L, Yang S, Cao J, Kang D, Dai P, Zhai S, Han D, Young WY, Guan MX. Yuan H, et al. Among authors: chen j. Biochem Biophys Res Commun. 2007 Oct 12;362(1):94-100. doi: 10.1016/j.bbrc.2007.07.161. Epub 2007 Aug 8. Biochem Biophys Res Commun. 2007. PMID: 17698030
Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64.
Cheng J, Zhu Y, He S, Lu Y, Chen J, Han B, Petrillo M, Wrzeszczynski KO, Yang S, Dai P, Zhai S, Han D, Zhang MQ, Li W, Liu X, Li H, Chen ZY, Yuan H. Cheng J, et al. Among authors: chen j, chen zy. Am J Hum Genet. 2011 Jul 15;89(1):56-66. doi: 10.1016/j.ajhg.2011.05.027. Epub 2011 Jun 30. Am J Hum Genet. 2011. PMID: 21722859 Free PMC article.
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