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Article

Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa.

Investigative ophthalmology & visual science - 1 Sept 2006

García-Hoyos Maria, Garcia-Sandoval Blanca, Cantalapiedra Diego, Riveiro Rosa, Lorda-Sánchez Isabel, Trujillo-Tiebas Maria Jose, Rodriguez de Alba Marta, Millan Jose Maria, Baiget Monserrat, Ramos Carmen, Ayuso Carmen

Abstract excerpt

PURPOSE: The X-linked form of retinitis pigmentosa (XLRP) is the most severe type because of its early onset and rapid progression. Five XLRP loci have been mapped, although only two genes, RPGR (for RP3) and RP2, have been cloned. In this study, 30 unrelated XLRP Spanish families were screened to determine the molecular cause of the disease. METHODS: Haplotype analysis was performed, to determine whether the...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16936086
DOI: 10.1167/iovs.06-0323

Genes

RPGR

Provenance

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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Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa.PMID 16936086Read ↗

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