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Journal Article
by Chen, X and Sheng, X and Liu, G and Liu, Y and Li, H and Xie, P and Liu, Q and Yan, B and Zhao, C
CURRENT MOLECULAR MEDICINE, ISSN 1566-5240, 2018, Volume 18, Issue 6, pp. 306 - 311
Background: To report the co-existence of novel biallelic PDE6A mutations and heterozygous RPGR mutation in a Chinese female patient with retinitis pigmentosa... 
MEDICINE, RESEARCH & EXPERIMENTAL | Retinitis pigmentosa | genotype-phenotype correlation | X-linked | RPGR | DEGENERATION | mutation | EXON | GENE | CHINESE FAMILIES | ORF15 | PDE6A | LINKED RETINITIS-PIGMENTOSA
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2013, Volume 93, Issue 4, pp. 711 - 720
Journal Article
Gene, ISSN 0378-1119, 07/2019, Volume 707, pp. 86 - 92
Retinitis pigmentosa (RP) is the most common form of inherited retinal degenerative diseases. X-linked RP accounts for nearly 15% of all RP cases. In this... 
Protein stability | Mutation | Retinitis pigmentosa | RP2 | Proteasome | RETINAL DYSTROPHY | GENE | GENETICS & HEREDITY | MICE | PHOTORECEPTOR DEGENERATION | RPGR | Ubiquitin | Viral antibodies | Medical colleges | Biological products | Multiple myeloma | Carfilzomib | Antibodies | Genetic aspects | Tubulins | Index Medicus
Journal Article
Journal Article
Cell Reports, ISSN 2211-1247, 10/2018, Volume 25, Issue 3, pp. 611 - 623.e6
Mutations in cause ciliogenesis defects, leading to diverse clinical phenotypes, including Leber congenital amaurosis (LCA). Gene therapy for -associated... 
photoreceptors | retinal degeneration | AAV | gene therapy | LCA | CEP290 | ciliopathy | PLURIPOTENT STEM-CELLS | JOUBERT-SYNDROME | LEBER CONGENITAL AMAUROSIS | GENE REPLACEMENT THERAPY | MOUSE MODEL | CILIOPATHY | MUTATIONS | PHOTORECEPTOR DEGENERATION | CENTROSOMAL PROTEIN | RPGR | CELL BIOLOGY
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2009, Volume 85, Issue 2, pp. 240 - 247
Journal Article
Molecular Therapy, ISSN 1525-0016, 08/2017, Volume 25, Issue 8, pp. 1866 - 1880
Journal Article
Ophthalmic Surgery Lasers and Imaging Retina, ISSN 2325-8160, 07/2018, Volume 49, Issue 7, pp. 548 - 552
The majority of X-linked retinitis pigmentosa (XLRP) is due to mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene. Determining the... 
SURGERY | ISOFORMS | RP3 | OPHTHALMOLOGY | CARRIERS | RPGR | FAMILY
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 01/2011, Volume 52, Issue 1, pp. 494 - 503
PURPOSE. To determine whether massively parallel next-generation DNA sequencing offers rapid and efficient detection of disease-causing mutations in patients... 
RNA SPLICING GENE | TRANSCRIPTS | LEBER CONGENITAL AMAUROSIS | PROTEIN | FAMILIES | OPHTHALMOLOGY | CHINESE | PREVALENCE | SELECTION | BLINDNESS | RPGR | Genes, X-Linked | Genes, Dominant | DNA Mutational Analysis | Pedigree | Humans | Polymerase Chain Reaction | Retinitis Pigmentosa - genetics | Female | Male | Mutation | Sequence Analysis, DNA | Index Medicus
Journal Article