Article
The ND4 G11696A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation in a four-generation Chinese family.
Biochemical and biophysical research communications - 26 Oct 2007
Liao Zhisu, Zhao Jianyue, Zhu Yi, Yang Li, Yang Aifen, Sun Dongmei, Zhao Zhongnong, Wang Xinjian, Tao Zhihua, Tang Xiaowen, Wang Jindan, Guan Minqiang, Chen Jiafu, Li Zhiyuan, Lu Jianxin, 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. The penetrance of hearing loss (affected matrilineal relatives/total matrilineal relatives) in this pedigree was 53%, when aminoglycoside-induced deafness was included. When the effect of aminoglycosides was excluded, the penetrance of hearing loss in this...
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