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pubmed-article:19429592pubmed:abstractTextMutations in the retinitis pigmentosa GTPase regulator gene (RPGR) are estimated to cause up to 20% of all Caucasian retinitis pigmentosa and up to 75% of cases of X-Linked RP (XLRP). Exon open reading frame 15 (ORF15) is a purine-rich mutation hotspot. Mutations in RPGR ORF15 have also been documented to cause X linked cone-rod dystrophy (XLCORD) and atrophic macular degeneration at an unknown frequency.lld:pubmed
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pubmed-article:19429592pubmed:articleTitleRPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population.lld:pubmed
pubmed-article:19429592pubmed:affiliationCentre for Eye Research Australia, 32 Gisborne St, East Melbourne 3002, Australia. jbruddle@gmail.comlld:pubmed
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