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Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2016, Volume 25, Issue 20, pp. 4546 - 4555
Journal Article
Journal Article
Advances in Experimental Medicine and Biology, ISSN 0065-2598, 2018, Volume 1074, pp. 367 - 373
Journal Article
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
PLoS ONE, ISSN 1932-6203, 12/2014, Volume 9, Issue 12, pp. e114552 - e114552
Journal Article
The Journal of Pathology, ISSN 0022-3417, 09/2011, Volume 225, Issue 1, pp. 12 - 18
Journal Article
PLoS Genetics, ISSN 1553-7390, 12/2016, Volume 12, Issue 12, pp. e1006469 - e1006469
Journal Article
Ophthalmology, ISSN 0161-6420, 2003, Volume 110, Issue 3, pp. 549 - 558
Purpose: To study the retinal degeneration in an 111/2-year-old patient with Leber congenital amaurosis (LCA) caused by mutation in GUCY2D. Study Design:... 
GENE-MUTATIONS | SEVERE RETINAL DYSTROPHY | CRB1 GENE | NULL MUTATION | CONE-ROD DYSTROPHY | PHOTORECEPTOR |