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Identification and characterization of novel collagen VI non‐canonical splicing mutations causing ullrich congenital muscular dystrophy
Authors:Elena Martoni  Anna Urciuolo  Patrizia Sabatelli  Marina Fabris  Matteo Bovolenta  Marcella Neri  Paolo Grumati  Adele D'Amico  Marika Pane  Eugenio Mercuri  Enrico Bertini  Luciano Merlini  Paolo Bonaldo  Alessandra Ferlini  Francesca Gualandi
Institution:1. Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara;2. These authors equally contributed to the work.;3. Department of Histology, Microbiology and Medical Biotechnologies, University of Padova;4. IGM‐CNR, Unit of Bologna c/o IOR, Bologna;5. Unit of Molecular Medicine, Department of Laboratory Medicine, Bambino Gesu' Hospital, Rome;6. Department of Child Neurology and Psychiatry, Catholic University, Rome;7. Laboratory of Biology, IOR, Bologna
Abstract:
Keywords:Ullrich congenital muscular dystrophy  collagen VI  COL6A1  COL6A2  non‐canonical splicing mutations
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