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Progress in retinal and eye research, ISSN 1350-9462, 07/2008, Volume 27, Issue 4, pp. 391 - 419
Leber congenital amaurosis | Photoreceptors | Retina | Animal models | Connecting cilium | Visual cycle | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Animals | Retinal Degeneration - genetics | Vision, Ocular | Blindness - physiopathology | Genes | Humans | Eye Proteins - genetics | Retinal Degeneration - physiopathology | Blindness - genetics | Disease Models, Animal | Genetic research | Genetic disorders | Analysis | Human genetics | Index Medicus
Journal Article
The Lancet (British edition), ISSN 0140-6736, 2014, Volume 383, Issue 9923, pp. 1129 - 1137
Internal Medicine | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | Ophthalmology | Retinopathies | Choroideremia - physiopathology | Gene Transfer Techniques | Genetic Vectors - administration & dosage | Retinal Detachment - therapy | Humans | Middle Aged | Transgenes - genetics | Fluorescence | Male | Adaptor Proteins, Signal Transducing - genetics | Retinal Detachment - physiopathology | Adenoviridae - genetics | Adult | Aged | Choroideremia - therapy | Visual Acuity - physiology | Injections, Intraocular | Adaptor Proteins, Signal Transducing - administration & dosage | Genetic Therapy - methods | Care and treatment | Gene therapy | Patient outcomes | Choroideremia | Methods | Macular degeneration | Aging | Retina | Index Medicus | Abridged Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 04/2018, Volume 102, Issue 4, pp. 517 - 527
splicing modulation | nonsense-mediated decay | photoreceptor precursor cells | antisense oligonucleotide | ABCA4 | induced pluripotent stem cells | Stargardt disease | deep-intronic mutation | exonic splicing enhancer | pseudoexon | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Introns - genetics | Oligonucleotides, Antisense - pharmacology | RNA Splice Sites - genetics | Humans | Photoreceptor Cells, Vertebrate - drug effects | RNA, Messenger - genetics | Exons - genetics | Mutation - genetics | RNA, Messenger - metabolism | Macular Degeneration - congenital | ATP-Binding Cassette Transporters - genetics | Macular Degeneration - genetics | Base Sequence | Computer Simulation | Alleles | Photoreceptor Cells, Vertebrate - metabolism | Genetic aspects | RNA | Genomics | Stem cells | Index Medicus
Journal Article
The Journal of clinical investigation, ISSN 0021-9738, 2010, Volume 120, Issue 9, pp. 3042 - 3053
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Eye - pathology | Retinal Diseases - genetics | Retina - metabolism | Genetic Testing | Genes | Humans | Retinal Diseases - therapy | Retinal Diseases - metabolism | Lighting | Eye Proteins - genetics | Transgenes | cis-trans-Isomerases | Disease Models, Animal | Gene Transfer Techniques | Cats | Eye - anatomy & histology | Genes, Recessive | Retinaldehyde - genetics | Mice, Knockout | Carrier Proteins - genetics | Animals | Dogs | Mice | Mutation | Genetic Therapy - methods | Care and treatment | Gene mutations | Retinal degeneration | Genetic aspects | Research | Gene therapy | Health aspects | Index Medicus | Abridged Index Medicus | Review
Journal Article
Investigative ophthalmology & visual science, ISSN 0146-0404, 2019, Volume 60, pp. 3456 - 3467
Journal Article
Progress in retinal and eye research, ISSN 1350-9462, 09/2014, Volume 42, pp. 1 - 26
Animal model | Therapy | Retina | Photoreceptors | Cone disorder | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Animals | Color Vision Defects - congenital | Retinal Degeneration - genetics | Humans | Retinal Cone Photoreceptor Cells - physiology | Eye Proteins - genetics | Mutation | Retinal Degeneration - congenital | Color Vision Defects - genetics | Disease Models, Animal | Proteins | Genetic aspects | Nucleotide sequencing | Analysis | DNA sequencing | Index Medicus
Journal Article