Article
Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population.
Investigative ophthalmology & visual science - 1 Apr 2010
Yang Yaping, Zhang Xin, Chen Li Jia, Chiang Sylvia W Y, Tam Pancy O S, Lai Timothy Y Y, Chan Carmen K M, Wang Ningli, Lam Dennis S C, Pang Chi Pui
Abstract excerpt
Purpose. Mutations in the NR2E3 and NRL genes have been implicated in both autosomal dominant and autosomal recessive retinitis pigmentosa (RP). In this study, the mutation profiles of these two genes were investigated in Chinese RP patients. Methods. In 172 RP patients and 360 normal control subjects (180 from Hong Kong and 180 from Beijing), the coding exons and the exon-intron boundaries of NR2E3 and NRL were...
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