Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.

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Article

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.

Molecular vision - 6 Jun 2008

Neidhardt John, Glaus Esther, Lorenz Birgit, Netzer Christian, Li Yün, Schambeck Maria, Wittmer Mariana, Feil Silke, Kirschner-Schwabe Renate, Rosenberg Thomas, Cremers Frans P M, Bergen Arthur A B, Barthelmes Daniel, Baraki Husnia, Schmid Fabian, Tanner Gaby, Fleischhauer Johannes, Orth Ulrike, Becker Christian, Wegscheider Erika, Nürnberg Gudrun, Nürnberg Peter, Bolz Hanno Jörn, Gal Andreas, Berger Wolfgang

Abstract excerpt

PURPOSE: The goal of this study was to identify mutations in X-chromosomal genes associated with retinitis pigmentosa (RP) in patients from Germany, The Netherlands, Denmark, and Switzerland. METHODS: In addition to all coding exons of RP2, exons 1 through 15, 9a, ORF15, 15a and 15b of RPGR were screened for mutations. PCR products were amplified from genomic DNA extracted from blood samples and analyzed by...

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Identifiers

PMID: 18552978
PMCID: PMC2426717

Genes

RPGR

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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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