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Human Gene Therapy, ISSN 1043-0342, 02/2013, Volume 24, Issue 2, pp. 189 - 202
Mutations in GUCY2D are associated with recessive Leber congenital amaurosis-1 (LCA1). GUCY2D encodes photoreceptor-specific, retinal guanylate cyclase-1... 
Research Articles | OCULAR SUBRETINAL INJECTION | RETINAL DEGENERATION | MEDICINE, RESEARCH & EXPERIMENTAL | LINKED JUVENILE RETINOSCHISIS | OPTICAL COHERENCE TOMOGRAPHY | RHODOPSIN KINASE PROMOTER | LONG-TERM PRESERVATION | ADENOASSOCIATED VIRAL VECTORS | CONE-ROD DYSTROPHY | VISUAL FUNCTION | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | PHOTORECEPTOR DEGENERATION | Leber Congenital Amaurosis - pathology | Dependovirus - genetics | Genetic Vectors - administration & dosage | Humans | Retinal Cone Photoreceptor Cells - enzymology | Retina - enzymology | G-Protein-Coupled Receptor Kinase 1 - metabolism | Retinal Cone Photoreceptor Cells - pathology | Retinal Rod Photoreceptor Cells - enzymology | Receptors, Cell Surface - administration & dosage | Leber Congenital Amaurosis - therapy | Guanylate Cyclase - administration & dosage | Gene Transfer Techniques | Promoter Regions, Genetic | Dependovirus - metabolism | Tomography, Optical Coherence | Mice, Inbred C57BL | Receptors, Cell Surface - metabolism | Guanylate Cyclase - metabolism | Mice, Knockout | Animals | Maze Learning | G-Protein-Coupled Receptor Kinase 1 - genetics | Guanylate Cyclase - genetics | Mice | Enzyme Activation | Retina - pathology | Retinal Rod Photoreceptor Cells - pathology | Genetic Therapy - methods | Receptors, Cell Surface - genetics | Index Medicus
Journal Article
Advances in Experimental Medicine and Biology, ISSN 0065-2598, 2018, Volume 1074, pp. 125 - 131
Journal Article
MOLECULAR VISION, ISSN 1090-0535, 03/2019, Volume 25, Issue 1, pp. 204 - 214
Purpose: To screen RPE65 in 187 families with Leber congenital amaurosis (LCA). Methods: Sanger sequencing and/or targeted exome sequencing was employed to... 
SYSTEM | PROTEIN | EFFICACY | MOLECULAR DIAGNOSIS | FAMILIES | BIOCHEMISTRY & MOLECULAR BIOLOGY | OPHTHALMOLOGY | GENE-THERAPY | MUTATIONS | INHERITED RETINAL DYSTROPHY | EXPRESSION | RPE65 | Index Medicus | Leber congenital amaurosis
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