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Article

Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR.

Cold Spring Harbor perspectives in medicine - 9 Oct 2014

Beltran William A, Cideciyan Artur V, Lewin Alfred S, Hauswirth William W, Jacobson Samuel G, Aguirre Gustavo D

Abstract excerpt

X-linked retinitis pigmentosa (XLRP) caused by mutations in the RPGR gene is a severe and early onset form of retinal degeneration, and no treatment is currently available. Recent evidence in two clinically relevant canine models shows that adeno-associated viral (AAV)-mediated RPGR gene transfer to rods and cones can prevent disease onset and rescue photoreceptors at early- and mid-stages of degeneration. There...

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Source

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Identifiers

PMID: 25301933
DOI: 10.1101/cshperspect.a017392
PMCID: PMC4315918

Genes

RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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