Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy

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

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Medicine & Life Sciences