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Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes
Authors:István Magyar  Dvora Colman  Eliane Arnold  Daniela Baumgartner  Armand Bottani  Siv Fokstuen  Marie‐Claude Addor  Wolfgang Berger  Thierry Carrel  Beat Steinmann  Gábor Mátyás
Institution:1. Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland;2. Division of Metabolism and Molecular Pediatrics, University Children's Hospital, Zurich, Switzerland;3. Department of Pediatric Cardiology, Innsbruck Medical University, Innsbruck, Austria;4. Division of Medical Genetics, Geneva University Hospitals, Geneva, Switzerland;5. Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland;6. Clinic for Cardiovascular Surgery, University Hospital, Berne, Switzerland
Abstract:
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