Article
The prevalence of connexin 26 ( GJB2) mutations in the Chinese population.
Human genetics - 1 Oct 2002
Liu Xue Zhong, Xia Xia Juan, Ke Xiao Mei, Ouyang Xiao Mei, Du Li Lin, Liu Yu He, Angeli Simon, Telischi Fred F, Nance Walter E, Balkany Thomas, Xu Li Rong
Abstract excerpt
Mutations in GJB2, encoding gap junction beta 2 protein (connexin 26), are responsible for the commonest form of non-syndromic recessive deafness in many populations. It has been reported recently that the most common 35delG mutation in GJB2 is exceptionally low in Japanese and Korean populations, but another deletion, 235delC, is relatively frequent. Since the Chinese constitute approximately one fifth of the...
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