Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit ( GNPTG) gene in patients with mucolipidosis III gamma

Emanuele Persichetti, Nadia A. Chuzhanova, Andrea Dardis, Barbara Tappino, Sandra Pohl, Nick S T Thomas, Camillo Rosano, Chiara Balducci, Silvia Paciotti, Silvia Dominissini, Anna Lisa Montalvo, Michela Sibilio, Rossella Parini, Miriam Rigoldi, Maja Di Rocco, Giancarlo Parenti, Aldo Orlacchio, Bruno Bembi, David N. Cooper, Mirella FilocamoTommaso Beccari

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Medicine & Life Sciences