Article
Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants.
Human mutation - 1 Nov 2014
Gardner Jessica C, Liew Gerald, Quan Ying-Hua, Ermetal Burcu, Ueyama Hisao, Davidson Alice E, Schwarz Nele, Kanuga Naheed, Chana Ravinder, Maher Eamonn R, Webster Andrew R, Holder Graham E, Robson Anthony G, Cheetham Michael E, Liebelt Jan, Ruddle Jonathan B, Moore Anthony T, Michaelides Michel, Hardcastle Alison J
Abstract excerpt
Mutations in the OPN1LW (L-) and OPN1MW (M-)cone opsin genes underlie a spectrum of cone photoreceptor defects from stationary loss of color vision to progressive retinal degeneration. Genotypes of 22 families with a range of cone disorders were grouped into three classes: deletions of the locus control region (LCR); missense mutation (p.Cys203Arg) in an L-/M-hybrid gene; and exon 3 single-nucleotide polymorphism...
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