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X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone Opsins

25 Jun 2010

Abstract excerpt

X-linked cone and cone-rod dystrophies (XLCOD and XLCORD) are a heterogeneous group of progressive disorders that solely or primarily affect cone photoreceptors. Mutations in exon ORF15 of the RPGR gene are the most common underlying cause. In a previous study, we excluded RPGR exon ORF15 in some families with XLCOD. Here, we report genetic mapping of XLCOD to Xq26.1-qter. A significant LOD score was detected...

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PMID: 20579627
DOI: 10.1016/j.ajhg.2010.05.019

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