Article
The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene.
Progress in retinal and eye research - 1 Mar 2008
Boon Camiel J F, den Hollander Anneke I, Hoyng Carel B, Cremers Frans P M, Klevering B Jeroen, Keunen Jan E E
Abstract excerpt
Peripherin/rds is an integral membrane glycoprotein, mainly located in the rod and cone outer segments. The relevance of this protein to photoreceptor outer segment morphology was first demonstrated in retinal degeneration slow (rds) mice. Thus far, over 90 human peripherin/RDS gene mutations have been identified. These mutations have been associated with a variety of retinal dystrophies, in which there is a...
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