Article
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.
Proceedings of the National Academy of Sciences of the United States of America - 17 Mar 1998
Morimura H, Fishman G A, Grover S A, Fulton A B, Berson E L, Dryja T P
Abstract excerpt
RPE65 is a protein of unknown function expressed specifically by the retinal pigment epithelium. We examined all 14 exons of this gene in 147 unrelated patients with autosomal recessive retinitis pigmentosa (RP), in 15 patients with isolate RP, and in 45 patients with Leber congenital amaurosis (LCA). Sequence anomalies that were likely to be pathogenic were found in two patients with recessive RP, in one patient...
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