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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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| Publicat a: | Hum Mutat |
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| Autors principals: | , , , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BlackWell Publishing Ltd
2014
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| Matèries: | |
| Accés en línia: | 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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