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Article

RPGR: Role in the photoreceptor cilium, human retinal disease, and gene therapy

21 Dec 2010

Abstract excerpt

Cilia are specialized dynamic organelles extending from the surface of almost all mammalian cells. Since proteins and protein precursors are transported across the ciliary compartments via intraflagellar transport (IFT), mutations in genes encoding proteins that participate in IFT can cause a spectrum of different ciliopathies. Photoreceptors of the mammalian retina contain ciliary structures that connect the...

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PMID: 21174525
DOI: 10.3109/13816810.2010.535889

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