Article
Variations in opsin coding sequences cause x-linked cone dysfunction syndrome with myopia and dichromacy.
Investigative ophthalmology & visual science - 15 Feb 2013
McClements Michelle, Davies Wayne I L, Michaelides Michel, Young Terri, Neitz Maureen, MacLaren Robert E, Moore Anthony T, Hunt David M
Abstract excerpt
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, long range PCR to establish gene order, and quantitative PCR to establish gene copy number. In vitro expression of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.