Article
Mutation spectrum and frequency of the RHO gene in 248 Chinese families with retinitis pigmentosa.
Biochemical and biophysical research communications - 8 Oct 2010
Li Shiqiang, Xiao Xueshan, Wang Panfeng, Guo Xiangming, Zhang Qingjiong
Abstract excerpt
Mutations in the rhodopsin gene (RHO) are suggested to be the most common cause of autosomal dominant retinitis pigmentosa (RP). However, the exact spectrum and frequency of RHO mutations in different forms of RP has not been well defined, especially in Chinese populations. In this study, direct cycle sequencing was used to analyze all five coding exons and adjacent intronic regions of RHO in 248 Chinese probands...
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