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research article
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.
Type
research article
Web of Science ID
WOS:000281502700056
Authors
Michaelides, Michel
•
Gaillard, Marie-Claire
•
Escher, Pascal
•
Tiab, Leila
•
Bedell, Matthew
•
Borruat, Francois-Xavier
•
Barthelmes, Daniel
•
Carmona, Ruben
•
Zhang, Kang
•
White, Edward
Publication date
2010
Published in
Volume
51
Start page
4771
End page
4780
Peer reviewed
REVIEWED
EPFL units
Available on Infoscience
December 16, 2011
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