Article
Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation.
Mitochondrion - 1 Jan 2010
Lu Jianxin, Qian Yaping, Li Zhiyuan, Yang Aifen, Zhu Yi, Li Ronghua, Yang Li, Tang Xiaowen, Chen Bobei, Ding Yu, Li Yongyan, You Junyan, Zheng Jing, Tao Zhihua, Zhao Fuxin, Wang Jindan, Sun Dongmei, Zhao Jianyue, Meng Yanzi, Guan Min-Xin
Abstract excerpt
Mitochondrial 12S rRNA 1555A>G mutation is one of the important causes of aminoglycoside-induced and nonsyndromic deafness. Our previous investigations showed that the A1555G mutation was a primary factor underlying the development of deafness but was insufficient to produce deafness phenotype. However, it has been proposed that mitochondrial haplotypes modulate the phenotypic manifestation of the 1555A>G...
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