Article
Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss.
Mitochondrion - 1 Jun 2010
Lu Jianxin, Li Zhiyuan, Zhu Yi, Yang Aifen, Li Ronghua, Zheng Jing, Cai Qin, Peng Guanghua, Zheng Wuwei, Tang Xiaowen, Chen Bobei, Chen Jianfu, Liao Zhisu, Yang Li, Li Yongyan, You Junyan, Ding Yu, Yu Hong, Wang Jindan, Sun Dongmei, Zhao Jianyue, Xue Ling, Wang Jiying, Guan Min-Xin
Abstract excerpt
In this report, we investigated the frequency and spectrum of mitochondrial 12S rRNA variants in a large cohort of 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss. Mutational analysis of 12S rRNA gene in these subjects identified 68 (54 known and 14 novel) variants. The frequencies of known 1555A>G and 1494C>T mutations were 3.96% and 0.18%, respectively, in this...
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