Publication
Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations
Anna Caciotti, Rodolfo Tonin, Miriam Rigoldi, Lorenzo Ferri, Serena Catarzi, Catia Cavicchi, Elena Procopio, Maria Alice Donati, Anna Ficcadenti, Agata Fiumara, Rita Barone, Livia Garavelli, Maja Di Rocco, Mirella Filocamo, Daniela Antuzzi, Maurizio Scarpa, Sean D. Mooney, Biao Li, Anastasia Skouma, Sebastiano Bianca, Daniela Concolino, Rosario Casalone, Elena Monti, Marilena Pantaleo, Sabrina Giglio, Renzo Guerrini, Rossella Parini, Amelia Morrone
Human Mutation, March 2015, Wiley
DOI: 10.1002/humu.22751