Article
The mitochondrial tRNA(Ala) T5628C variant may have a modifying role in the phenotypic manifestation of the 12S rRNA C1494T mutation in a large Chinese family with hearing loss.
Biochemical and biophysical research communications - 1 Jun 2007
Han Dongyi, Dai Pu, Zhu Qingwen, Liu Xin, Huang Deliang, Yuan Yongyi, Yuan Huijun, Wang Xinjian, Qian Yaping, Young Wie-Yen, Guan Min-Xin
Abstract excerpt
We report here the clinical, genetic, and molecular characterization of a large Han Chinese family with aminoglycoside-induced and nonsyndromic hearing loss. Two and 13 of 66 matrilineal relatives suffered from aminoglycoside-induced and nonsyndromic hearing loss, respectively. These matrilineal relatives exhibited a wide range of severity of hearing loss, varying from profound to normal hearing. In the absence...
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