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Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 09/2018, Volume 59, Issue 11, pp. 4434 - 4440
Purpose: Mutations in the ORF15 region of RPGR account for approximately half of all X-linked retinitis pigmentosa cases. However, a robust high-throughput... 
ORF15 | Genetic testing | RPGR ORF15 | X-linked retinitis pigmentosa | RPGR | MUTATION ANALYSIS | DIAGNOSIS | EXON | GENE | RP2 | genetic testing | FAMILIES | DISEASE | OPHTHALMOLOGY | SPECTRUM | LINKED RETINITIS-PIGMENTOSA | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2012, Volume 7, Issue 5, pp. e35865 - 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 | Index Medicus
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2016, Volume 6, Issue 1, pp. 39179 - 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 | Index Medicus
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 05/2005, Volume 14, Issue 9, pp. 1183 - 1197
Journal Article
Journal Article
Klinika oczna, ISSN 0023-2157, 2016, Volume 118, Issue 2, p. 139
The aim of the study was to identify the genetic background of retinitis pigmentosa in a Polish family with previously excluded involvement of the majority of... 
Genetic Testing | Exons | Pedigree | Humans | Retinitis Pigmentosa - genetics | Retinitis Pigmentosa - metabolism | Female | Genetic Diseases, X-Linked - genetics | Male | Eye Proteins - genetics | Genetic Diseases, X-Linked - metabolism | Mutation
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2002, Volume 39, Issue 4, pp. 284 - 285
Journal Article
Human Mutation, ISSN 1059-7794, 11/2002, Volume 20, Issue 5, pp. 405 - 405
RGPR was the first gene found to be mutated in XLRP, the subtype of RP displaying the most severe form of retinal degeneration with partial or complete... 
retinitis pigmentosa | retinal degeneration | XLRP | RP3 | RPGR | Frameshift Mutation | Exons | Europe | Humans | Open Reading Frames | Retinitis Pigmentosa - genetics | Male | Carrier Proteins - genetics | Female | Genetic Diseases, X-Linked - genetics | Polymorphism, Single Nucleotide | Mutation | Eye Proteins | Index Medicus
Journal Article
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