Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase α- and β-subunit (GNPTAB) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients - Tappino, Barbara; Chuzhanova, Nadia A; Regis, Stefano; Dardis, Andrea; Corsolini, Fabio; Stroppiano, Marina; Tonoli, Emmanuel; Beccari, Tommaso; Rosano, Camillo; Mucha, Jan; Blanco, Mariana; Szlago, Marina; et al. (Human mutation, 2009)
Keywords: GNPTAB; Mucolipidosis II; Mucolipidosis III; polymorphisms