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.


Published in:
Investigative Ophthalmology & Visual Science, 51, 4771-4780
Year:
2010
Keywords:
Laboratories:




 Record created 2011-12-16, last modified 2018-09-13


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