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Experimental Eye Research, ISSN 0014-4835, 2002, Volume 75, Issue 4, pp. 431 - 443
X-linked retinitis pigmentosa comprises the severe forms of RP, with early onset of night blindness, rapid constriction of visual fields and eventual loss of... 
X-inactivation | Photoreceptor differentiation | Exon ORF15 | RP3 | Immunocytochemistry | Retinitis pigmentosa | Retinal degeneration | RPGR
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2016, Volume 6, p. 39179
The aim of this study was to describe a new pathogenic variant in the mutational hot spot exon ORF15 of retinitis pigmentosa GTPase regulator (RPGR) gene... 
RP2 | EXON ORF15 | MULTIDISCIPLINARY SCIENCES | PHENOTYPE | RPGR GENE | DOMINANT | ISOFORM | CILIA | DEGENERATION | Pedigree | Retinitis pigmentosa | Hot spots | Myopia | Retina | Retinitis | Open reading frames | Mutation | Minority & ethnic groups | Heterozygosity | Guanosinetriphosphatase
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2012, Volume 7, Issue 5, p. e35865
Animal models of human disease are an invaluable component of studies aimed at understanding disease pathogenesis and therapeutic possibilities. Mutations in... 
NEGATIVE RESPONSE | GENE | ONSET RETINAL DEGENERATION | B-WAVE | MULTIDISCIPLINARY SCIENCES | A-WAVE | RPGR EXON ORF15 | GTPASE REGULATOR RPGR | DISEASE EXPRESSION | PHOTORECEPTOR DEGENERATION | CONE OPSIN MISLOCALIZATION | Immunohistochemistry | Retina - metabolism | Humans | Molecular Sequence Data | Immunoblotting | Male | Mice, 129 Strain | Rhodopsin - metabolism | Retinal Degeneration - metabolism | Mice, Mutant Strains | Base Sequence | Female | Eye Proteins - genetics | Disease Models, Animal | Electroretinography | Amino Acid Sequence | Retinal Degeneration - genetics | Mice, Inbred C57BL | Retina - physiopathology | Retinitis Pigmentosa - genetics | Retinitis Pigmentosa - metabolism | Exons - genetics | Reverse Transcriptase Polymerase Chain Reaction | Sequence Homology, Nucleic Acid | Sequence Homology, Amino Acid | Carrier Proteins - genetics | Animals | Carrier Proteins - metabolism | Eye Proteins - metabolism | Mice | Mutation | Retinal Degeneration - pathology | Retina - pathology | Retinitis Pigmentosa - pathology | Medicine, Experimental | Medical research | Rhodopsin | Genetic aspects | Retinitis pigmentosa | Analysis | Neurosciences | Animal models | Disease | Laboratories | Physicians | Pathogenesis | Diagnostic tests | Neurobiology | Transducin | Retina | Males | Medical schools | Genotype & phenotype | Histopathology | Neurodegeneration | Degeneration | Congenital diseases | Stop codon | Electroretinograms | Thickness | Retinal degeneration | Photoreceptors | Gene loci | Retinitis | Dystrophy | Guanosinetriphosphatase
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 04/2010, Volume 19, Issue 13, pp. 2581 - 2593
The successful restoration of visual function with recombinant adeno-associated virus (rAAV)-mediated gene replacement therapy in animals and humans with an... 
OCULAR SUBRETINAL INJECTION | EARLY RETINAL DEGENERATION | CHILDHOOD BLINDNESS | ALPHA-SUBUNIT | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | AUTOSOMAL RECESSIVE ACHROMATOPSIA | RPGR EXON ORF15 | ALASKAN MALAMUTE | RETINITIS-PIGMENTOSA | GATED CHANNEL | TOTAL COLOURBLINDNESS
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 05/2005, Volume 14, Issue 9, pp. 1183 - 1197
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2016, Volume 25, Issue 24, pp. 5444 - 5459
Mutations in the ORF15 exon of the RPGR gene cause a common form of X-linked retinitis pigmentosa, which often results in severe loss of vision. In dogs and... 
MUTATION ANALYSIS | OPTICAL COHERENCE TOMOGRAPHY | RECEIVING VITAMIN-A | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | CLINICAL VARIABILITY | MACULAR DEGENERATION | RPGR EXON ORF15 | GENE-THERAPY | AUTOSOMAL-DOMINANT | LINKED RETINITIS-PIGMENTOSA | LEBERS CONGENITAL AMAUROSIS
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2012, Volume 109, Issue 6, pp. 2132 - 2137
Journal Article