Associated Papers
Genotype-Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review.
Yang J et al.
Frontiers in Genetics, 2021
34745198 (PubMed )
Supplement: Table_1.XLSX › Sheet1
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
Branham K et al.
Investigative Ophthalmology & Visual Science, 2012
Histopathologic-genotypic correlations in retinitis pigmentosa and allied diseases.
Ben-Arie-Weintrob Y et al.
Ophthalmic Genetics, 2005
A presumed missense mutation of RPGR causes abnormal RNA splicing with exon skipping.
Demirci FY et al.
American Journal of Ophthalmology, 2004
Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data.
Wegscheider E et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2004
Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families.
Koenekoop RK et al.
American Journal of Ophthalmology, 2003
Phenotype in two families with RP3 associated with RPGR mutations.
Lorenz B et al.
Ophthalmic Genetics, 2003
X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.
Bader I et al.
Investigative Ophthalmology & Visual Science, 2003
Mutations of RPGR in X-linked retinitis pigmentosa (RP3).
Vervoort R et al.
Human Mutation, 2002
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.
Miano MG et al.
European Journal of Human Genetics : Ejhg, 1999
Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.
Buraczynska M et al.
American Journal of Human Genetics, 1997
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).
Meindl A et al.
Nature Genetics, 1996
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