Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants

por Zampieri, Stefania, Cattarossi, Silvia, Oller Ramirez, Ana Maria, Rosano, Camillo, Lourenco, Charles Marques, Passon, Nadia, Moroni, Isabella, Uziel, Graziella, Pettinari, Antonella, Stanzial, Franco, de Kremer, Raquel Dodelson, Azar, Nydia Beatriz, Hazan, Filiz, Filocamo, Mirella, Bembi, Bruno, Dardis, Andrea
Publicado 2012