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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Bibliographische Detailangaben
Veröffentlicht in:Hum Mutat
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: BlackWell Publishing Ltd 2014
Schlagworte:
Research Articles
Online Zugang: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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