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Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa.

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第一作者: Adriana,Buskin
第一单位: Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
作者单位: Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK. [1] Leeds Institute of Medical Research, University of Leeds, St James's University Hospital, Beckett Street, Leeds, LS9 7TF, UK. [2] Department of Cellular Biochemistry, Max-Planck-Institute of Biophysical Chemistry, Am Fassberg 11, Goettingen, D-37077, Germany. [3] Department of Biological Sciences, Durham University, South Road, Durham, DH1 3LE, UK. [4] MRC Medical Bioinformatics Centre, University of Leeds, Clarendon Way, Leeds, LS2 9JT, UK. [5] Ocular Genomics Institute, Mass Eye and Ear and Harvard Medical School, 243 Charles Street, Boston, MA, 02114, USA. [6] Departments of Ophthalmology and Biochemistry, Jacobs School of Medicine and Biomedical Science, State University of New York at Buffalo, 955 Main Street, Buffalo, NY, 14203-1121, USA. [7] Institute of Neuroscience, Medical School, Newcastle University, Newcastle upon Tyne, NE1 7RU, UK. [8] Electron Microscopy Research Services, Medical School, Newcastle University, Newcastle upon Tyne, NE1 7RU, UK. [9] Institute for Cell and Molecular Biosciences, Medical School, Newcastle University, Catherine Cookson Building, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK. [10] Newcastle University Protein and Proteome Analysis (NUPPA), Devonshire Building, Devonshire Terrace, Newcastle upon Tyne, NE1 7RU, UK. [11] Interdisciplinary Computing and Complex Biosystems (ICOS) Research Group, School of Computing, Newcastle University, Urban Sciences Building, 1 Science Square, Newcastle Helix, Newcastle upon Tyne, NE4 5TG, UK. [12] Princess Al Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, 7393 Al-Malae'b St, Jeddah, 22252, Saudi Arabia. [13] Centre for Research in Biosciences, University of the West of England, Frenchay Campus, Coldharbour Lane, Bristol, BS16 1QY, UK. [14] UCL Institute of Ophthalmology, 11-43 Bath Street, London, EC1V 9EL, UK. [15] Bioanalytical Mass Spectrometry Group, Max-Planck-Institute for Biophysical Chemistry, Am Fassberg 11, Goettingen, D-37077, Germany. [16] Department of Biological Sciences, Durham University, South Road, Durham, DH1 3LE, UK. sushma@cantab.net.;Computational Biology Unit, Department of Biological Sciences, University of Bergen, Thormohlensgt 55, Bergen, N-5008, Norway. sushma@cantab.net. [17] Leeds Institute of Medical Research, University of Leeds, St James's University Hospital, Beckett Street, Leeds, LS9 7TF, UK. c.johnson@leeds.ac.uk. [18] Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK. majlinda.lako@ncl.ac.uk. [19]
DOI 10.1038/s41467-018-06448-y
PMID 30315276
发布时间 2025-05-30
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