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Article

The human retinitis pigmentosa GTPase regulator gene variant database.

Human mutation - 1 May 2008

Shu Xinhua, McDowall Ewan, Brown Alastair F, Wright Alan F

Abstract excerpt

X-linked retinitis pigmentosa (XLRP) is a genetically heterogeneous retinal degeneration. The major subtype of XLRP is RP3, which accounts for 6 to 20% of all RP cases. Mutations in the RP3 gene, called RP GTPase regulator (RPGR), cause a number of different retinopathies. An RPGR database has been created using the Leiden Open Source Variation Database (LOVD) software system and has comprehensive search and...

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Identifiers

PMID: 18361418
DOI: 10.1002/humu.20733

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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