(Q54730236)
Statements
Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients (English)
Andrea Dardis
Fabio Corsolini
Marina Stroppiano
Emmanuel Tonoli
Tommaso Beccari
Jan Mucha
Mariana Blanco
Marina Szlago
Maja Di Rocco
Mirella Filocamo