Article
[Mutations of Cx26 gene in patients with NSHL and intracellular distribution of two mutants].
Yi chuan = Hereditas - 1 Jul 2009
Li Jing-Zhi, Hu Yi-Qiao, Wang Shu-Hui, Cheng Hong-Sheng, Pan Qian, Xia Kun, Hu Zheng-Mao, Feng Yong
Abstract excerpt
To analyze the frequencies and characteristics of Cx26 gene mutations in Chinese patients with nonsyndromic hearing loss (NSHL) and investigate the intracellular localization of two mutants, 139 unrelated familial cases with non-syndromic hearing loss were screened for mutation in Cx26 gene by direct sequencing. Two mutants, p.F115C and p.V37I, were structured into pEGFP vectors and transfected into Hela cells to...
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