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Article

Disease mechanisms of X-linked retinitis pigmentosa due to RP2 and RPGR mutations.

Biochemical Society transactions - 15 Oct 2016

Lyraki Rodanthi, Megaw Roly, Hurd Toby

Abstract excerpt

Photoreceptor degeneration is the prominent characteristic of retinitis pigmentosa (RP), a heterogeneous group of inherited retinal dystrophies resulting in blindness. Although abnormalities in many pathways can cause photoreceptor degeneration, one of the most important causes is defective protein transport through the connecting cilium, the structure that connects the biosynthetic inner segment with the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27911705
DOI: 10.1042/BST20160148

Genes

RPGR

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