X-Linked Recessive Atrophic Macular Degeneration from RPGR Mutation

Photoreceptor loss in age-related macular degeneration.

Christine A. Curcio, Nancy E. Medeiros, C. Leigh Millican · PubMed · 1996 · 811 citations

Medicine, Ophthalmology, Vision Science +17

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

F. P. M. Cremers · Human Molecular Genetics · 1998 · 554 citations

Life Sciences, Genetics, Molecular Genetics +17

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

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

John A. Wells, John J. Wroblewski, Jeffrey Keen et al. · Nature Genetics · 1993 · 438 citations

Medicine, Genetics, Molecular Genetics +12