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RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy

Davidson, AE; Sergouniotis, PI; Mackay, DS; Wright, GA; Waseem, NH; Michaelides, M; Holder, GE; (2013) RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy. HUMAN MUTATION , 34 (3) pp. 506-514. 10.1002/humu.22264.

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Type: Article
Title: RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy
DOI: 10.1002/humu.22264
Keywords: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, GENETICS & HEREDITY, RP1L1, retinitis pigmentosa 1-like1, RP, retinitis pigmentosa, occult macular dystrophy, retinal disease, exome sequencing, PHOTORECEPTOR DEGENERATION, GENE-MUTATIONS, PROTEIN, ROLES, LOCUS
UCL classification: UCL > School of Life and Medical Sciences
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology > Institute of Ophthalmology - Genetics
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology > Institute of Ophthalmology - Ocular Biology
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology > Institute of Ophthalmology - Visual Neuroscience
UCL > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > School of Life and Medical Sciences > Faculty of Life Sciences > Biosciences (Division of) > Genetics, Evolution and Environment > UCL Genetics Institute
URI: http://discovery.ucl.ac.uk/id/eprint/1382730
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