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Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment |
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| Authors: | Carl Spickett Pirro Hysi Chistopher J Hammond Alan Prescott Gregory S Fincham Arabella V Poulson Annie M McNinch Allan J Richards Martin P Snead |
| Institution: | 1. Vitreoretinal Research Group, Cambridge University NHS Foundation Trust, Cambridge, UK;2. Department of Pathology, University of Cambridge, Cambridge, UK;3. Academic Unit Ophthalmology, King's College London, London;4. College of Life Sciences, University of Dundee, Dundee, Scotland, UK;5. Regional Molecular Genetics Laboratory, Cambridge University NHS Foundation Trust, Cambridge, UK |
| Abstract: | |
| Keywords: | alternative splicing COL2A1 giant retinal tear posterior vitreous detachment retinal detachment |