Retinal Histopathology of an XLRP Carrier with a Mutation in the RPGR Exon ORF15

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X–linked retinitis pigmentosa (RP3)

A Meindl, Katherine L. Dry, Karin A. Herrmann et al. · Nature Genetics · 1996 · 480 citations

Medicine, Genetics, Molecular Genetics +2

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

R. Vervoort, Alan Lennon, Alan C. Bird et al. · Nature Genetics · 2000 · 444 citations

Life Sciences, Genetics, Molecular Genetics +9

Positional cloning of the gene for X-linked retinitis pigmentosa 2

Uwe Schwahn, Steffen Lenzner, Juan Dong et al. · Nature Genetics · 1998 · 382 citations

Life Sciences, Genetics, Molecular Genetics +7

A retinitis pigmentosa GTPase regulator (RPGR)- deficient mouse model for X-linked retinitis pigmentosa (RP3)

Donghyun Hong, Basil S. Pawlyk, Michael A. Sandberg et al. · Proceedings of the National Academy of Sciences · 2000 · 255 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +12

A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa

Debra K. Breuer, Beverly M. Yashar, Elena V. Filippova et al. · The American Journal of Human Genetics · 2002 · 246 citations · Full text

Medicine, Genetics, Molecular Genetics +12