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Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells |
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| Authors: | Bruno Palhais Veronica S. Pr?stegaard Rugivan Sabaratnam Thomas Koed Doktor Seraina Lutz Patricie Burda Terttu Suormala Matthias Baumgartner Brian Fowler Gitte Hoffmann Bruun Henriette Skovgaard Andersen Viktor Ko?ich Brage Storstein Andresen |
| Affiliation: | 1.Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark;2.Division of Metabolism, University Children''s Hospital, Zürich, Switzerland;3.Institute of Inherited Metabolic Disorders, Charles University in Prague-First Faculty of Medicine and General University Hospital, Praha, Czech Republic |
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