The PROM1 Mutation p.R373C Causes an Autosomal Dominant Bull's Eye Maculopathy Associated with Rod, Rod–Cone, and Macular Dystrophy

PURPOSE. To characterize in detail the phenotype of five unrelated families with autosomal dominant bull's eye maculopathy (BEM) due to the R373C mutation in the PROM1 gene. METHODS. Forty-one individuals of five families of Caribbean (family A), British (families B, D, E), and Italian (family...

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Hauptverfasser: Michaelides, Michel, Gaillard, Marie-Claire, Escher, Pascal, Tiab, Leila, Bedell, Matthew, Borruat, François-Xavier, Barthelmes, Daniel, Carmona, Ruben, Zhang, Kang, White, Edward, McClements, Michelle, Robson, Anthony G., Holder, Graham E., Bradshaw, Keith, Hunt, David M., Webster, Andrew R., Moore, Anthony T., Schorderet, Daniel F., Munier, Francis L.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Association for Research in Vision and Ophthalmology, Inc. 2010
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2941169/
https://ncbi.nlm.nih.gov/pubmed/20393116
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.09-4561
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