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

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 fa...

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主要な著者: Gardner, Jessica C., Webb, Tom R., Kanuga, Naheed, Robson, Anthony G., Holder, Graham E., Stockman, Andrew, Ripamonti, Caterina, Ebenezer, Neil D., Ogun, Olufunmilola, Devery, Sophie, Wright, Genevieve A., Maher, Eamonn R., Cheetham, Michael E., Moore, Anthony T., Michaelides, Michel, Hardcastle, Alison J.
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2010
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2896775/
https://ncbi.nlm.nih.gov/pubmed/20579627
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.05.019
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