Article
Analysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa 3.
Molecular vision - 11 Jul 2007
Guyon Richard, Pearce-Kelling Susan E, Zeiss Caroline J, Acland Gregory M, Aguirre Gustavo D
Abstract excerpt
PURPOSE: Canine X-linked progressive retinal atrophy (XLPRA) is caused by mutations in RPGR exon ORF15, which is also a mutation hotspot in human X-linked retinitis pigmentosa 3 (RP3). The XLPRA1 form of disease has shown extensive phenotypic variability in a colony of dogs that all inherited the same mutant X-chromosome. This variability in onset and severity makes XLPRA1 a valuable model to use to identify...
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