Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype–Phenotype Correlation and Functional Investigation of Cone Opsin Variants

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 con...

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Enregistré dans:
Détails bibliographiques
Publié dans:Hum Mutat
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: BlackWell Publishing Ltd 2014
Sujets:
Research Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4285181/
https://ncbi.nlm.nih.gov/pubmed/25168334
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22679
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