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Article

RPGR mutation analysis and disease: an update.

Human mutation - 1 Apr 2007

Shu Xinhua, Black Graeme C, Rice Jacqueline M, Hart-Holden Niki, Jones Alison, O'Grady Anna, Ramsden Simon, Wright Alan F

Abstract excerpt

Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene are the most common single cause of retinitis pigmentosa, accounting for up to 15 to 20% of cases in Caucasians. A total of 240 different RPGR mutations have been reported, including 24 novel ones in this work, which are associated with X-linked retinitis pigmentosa (XLRP) (95%), cone, cone-rod dystrophy, or atrophic macular atrophy (3%), and...

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Identifiers

PMID: 17195164
DOI: 10.1002/humu.20461

Genes

RPGR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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