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Article

Mutation- and tissue-specific alterations of RPGR transcripts.

Investigative ophthalmology & visual science - 1 Mar 2010

Schmid Fabian, Glaus Esther, Cremers Frans P M, Kloeckener-Gruissem Barbara, Berger Wolfgang, Neidhardt John

Abstract excerpt

PURPOSE: The majority of patients with X chromosome-linked retinitis pigmentosa (XlRP) carry mutations in the RPGR gene. The authors studied whether patients with RPGR mutations show additional splice defects that may interfere with RPGR properties. METHODS: Patient-derived cell lines with RPGR m...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19834030
DOI: 10.1167/iovs.09-4031

Genes

RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19834030-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Mutation- and tissue-specific alterations of RPGR transcripts.PMID 19834030Read ↗

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