Article
A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls.
Investigative ophthalmology & visual science - 30 Mar 2011
Sergouniotis Panagiotis I, Li Zheng, Mackay Donna S, Wright Genevieve A, Borman Arundhati Dev, Devery Sophie R, Moore Anthony T, Webster Andrew R
Abstract excerpt
PURPOSE: Mutations of C2ORF71 have recently been reported to be associated with autosomal recessive (AR) retinitis pigmentosa (RP) in humans and with visual defects in zebrafish. C2ORF71 is located on 2p23.2 and encodes a 1288-amino-acid protein of unknown function, predominately expressed in the photoreceptors. The study was conducted to determine the prevalence of mutations in C2ORF71 in a cohort of probands...
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