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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Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2010
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Article
Accés en línia: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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