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Article

Mutational risk in highly repetitive exon ORF15 of the RPGR multidisease gene is not associated with haplotype background.

International journal of molecular medicine - 1 Dec 2005

Jacobi Felix K, Karra Daniela, Broghammer Martina, Blin Nikolaus, Pusch Carsten M

Abstract excerpt

Exon ORF15 is an alternative exon in the retinitis pigmentosa GTPase regulator (RPGR) gene containing a highly repetitive, purine-rich internal region. It constitutes a mutational hot spot giving rise to a group of heterogeneous X-linked retinal disorders. We sought to determine whether non-pathogenic substitutions and sequence length variations in the repetitive sequence have an influence on the risk of...

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Source

Identifiers

PMID: 16273303

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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Mutational risk in highly repetitive exon ORF15 of the RPGR multidisease gene is not associated with haplotype background.PMID 16273303Read ↗

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