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Scholarly Works (1 results)

Article
Peer Reviewed

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

Moore, Anthony;
Gardner, JC;
Liew, G;
Quan, Y-H;
Ermetal, B;
Ueyama, H;
Davidson, AE;
Schwarz, N;
Kanuga, N;
Chana, R;
Maher, ER

UC San Francisco Previously Published Works (2014)

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