The PROM1 Mutation p. R373C Causes an Autosomal Dominant Bull's Eye Maculopathy Associated with Rod, Rod-Cone, and Macular Dystrophy
Michaelides, Michel; Gaillard, Marie-Claire; Escher, Pascal; Tiab, Leila; Bedell, Matthew; Borruat, Francois-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.
2010
Abstract
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.
Details
Title
The PROM1 Mutation p. R373C Causes an Autosomal Dominant Bull's Eye Maculopathy Associated with Rod, Rod-Cone, and Macular Dystrophy
Author(s)
Michaelides, Michel ; Gaillard, Marie-Claire ; Escher, Pascal ; Tiab, Leila ; Bedell, Matthew ; Borruat, Francois-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.
Published in
Investigative Ophthalmology & Visual Science
Volume
51
Pages
4771-4780
Date
2010
Keywords
Other identifier(s)
View record in Web of Science
Laboratories
SV
Record Appears in
Scientific production and competences > Unattributed publications > SV - SV - Unattributed publications
Scientific production and competences > SV - School of Life Sciences > SV - Unattributed publications
Peer-reviewed publications
Work produced at EPFL
Journal Articles
Published
Scientific production and competences > SV - School of Life Sciences > SV - Unattributed publications
Peer-reviewed publications
Work produced at EPFL
Journal Articles
Published
Record creation date
2011-12-16