Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants

Authors :: Moore, Anthony
Gardner, JC
Liew, G
Quan, Y-H
Ermetal, B
Ueyama, H
Davidson, AE
Schwarz, N
Kanuga, N
Chana, R
Maher, ER
Source :: Moore, Anthony; Gardner, JC; Liew, G; Quan, Y-H; Ermetal, B; Ueyama, H; et al.(2014). Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants.. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/75q8b043
Publication Year :: 2014
Publisher :: eScholarship, University of California, 2014.
Abstract: 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 in

Language :: English
Database :: OpenAIRE
Journal :: Moore, Anthony; Gardner, JC; Liew, G; Quan, Y-H; Ermetal, B; Ueyama, H; et al.(2014). Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants.. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/75q8b043
Accession number :: edsair.od.......325..eff103520f40e047082e84e5676b1a72

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