@article{article08697939,
title   = {Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff Disease: functional characterization of 9 novel sequence variants},
author = {Zampieri, Stefania and Cattarossi, Silvia and Oller Ramirez, Ana Maria and Rosano, Camillo and Lourenço, Charles Marques and Passon, Nadia and Moroni, Isabella and Uziel, Graziella and Pettinari, Antonella and Stanzial, Franco and Kremer, Raquel Dodelson de and Azar, Nydia Beatriz and Hazan, Filiz and Filocamo, Mirella and Bembi, Bruno and Dardis, Andrea},
year = {2012},
doi = {10.1371/journal.pone.0041516},
journal   = {PLOS ONE}
}