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Advances in Experimental Medicine and Biology, ISSN 0065-2598, 2018, Volume 1074, pp. 229 - 236
Retinal dystrophies are a phenotypically and genetically complex group of conditions. Because of this complexity, it can be challenging in many families to... 
XLRP | Choroideremia | Deletions | Exome sequencing | Linkage analysis | RPGR | MEDICINE, RESEARCH & EXPERIMENTAL | CARRIERS | DOMINANT RETINITIS-PIGMENTOSA | CELL BIOLOGY | ACCOUNT | RP2 | DISEASE | OPHTHALMOLOGY | MUTATIONS
Journal Article
Journal Article
Human Gene Therapy Clinical Development, ISSN 2324-8637, 12/2018, Volume 29, Issue 4, pp. 188 - 197
Applied Genetic Technologies Corporation (AGTC) is developing a recombinant adeno-associated virus (rAAV) vector AGTC-501, also designated AAV2tYF-GRK1-RPGRco,... 
retinitis pigmentosa | gene therapy | XLRP | AAV | RPGR | MEDICINE, RESEARCH & EXPERIMENTAL | ISOFORMS | EFFICACY | RPGR-ORF15 | STABILITY | ROD | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | DISEASE | GENE-THERAPY | LINKED RETINITIS-PIGMENTOSA | GLUTAMYLATION | Index Medicus
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 09/2005, Volume 280, Issue 39, pp. 33580 - 33587
Journal Article
Human Mutation, ISSN 1059-7794, 01/2007, Volume 28, Issue 1, pp. 81 - 91
Journal Article
Human Mutation, ISSN 1059-7794, 02/2001, Volume 17, Issue 2, pp. 151 - 151
X‐linked forms of retinitis pigmentosa (XLRP) are among the most severe because of their early onset, often leading to significant visual impairment before the... 
retinal degeneration | RP3 | retinitis pigmentosa | XLRP | RPGR
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
Journal Article
Human Mutation, ISSN 1059-7794, 08/2001, Volume 18, Issue 2, pp. 109 - 119
Journal Article
Human Mutation, ISSN 1059-7794, 04/2000, Volume 15, Issue 4, pp. 386 - 386
X‐linked retinitis pigmentosa is a severe retinal degeneration characterized by night blindness and visual field constriction, leading to complete blindness... 
retinitis pigmentosa GTPase regulator | X‐linked retinitis pigmentosa | XLRP | RP3 | mutation analysis | RPGR | X-linked retinitis pigmentosa | GENETICS & HEREDITY
Journal Article
OPHTHALMIC PAEDIATRICS AND GENETICS, 06/1991, Volume 12, Issue 2, pp. 91 - 98
One large Australian family with X-linked retinal dystrophy was found to have extreme clinical variability in the hemizygotes. One member had the typical... 
XLRP GENE LOCI | ROD-CONE DEGENERATIONS | CONE-ROD DEGENERATIONS | GENETIC HETEROGENEITY | OPHTHALMOLOGY | MACULAR DEGENERATION | PEDIATRICS | CLINICAL HETEROGENEITY | X-LINKED RETINAL DYSTROPHY XLRP
Journal Article
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