Variations in Opsin Coding Sequences Cause X-Linked Cone Dysfunction Syndrome with Myopia and Dichromacy

PURPOSE. To determine the role of variant L opsin haplotypes in seven families with Bornholm Eye Disease (BED), a cone dysfunction syndrome with dichromacy and myopia. METHODS. Analysis of the opsin genes within the L/M opsin array at Xq28 included cloning and sequencing of an exon 3-5 gene fragment...

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Main Authors: McClements, Michelle, Davies, Wayne I. L., Michaelides, Michel, Young, Terri, Neitz, Maureen, MacLaren, Robert E., Moore, Anthony T., Hunt, David M.
Format: Artigo
Sprog:Inglês
Udgivet: The Association for Research in Vision and Ophthalmology 2013
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3597186/
https://ncbi.nlm.nih.gov/pubmed/23322568
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.12-11156
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