Article
Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa.
Proceedings of the National Academy of Sciences of the United States of America - 3 Jul 2001
Kedzierski W, Nusinowitz S, Birch D, Clarke G, McInnes R R, Bok D, Travis G H
Abstract excerpt
Retinitis pigmentosa (RP) is a group of inherited blinding diseases caused by mutations in multiple genes including RDS. RDS encodes rds/peripherin (rds), a 36-kDa glycoprotein in the rims of rod and cone outer-segment (OS) discs. Rom1 is related to rds with similar membrane topology and the identical distribution in OS. In contrast to RDS, no mutations in ROM1 alone have been associated with retinal disease....
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