Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect

✍ Scribed by Massimo Santoro; Anna Modoni; Mario Sabatelli; Francesca Madia; Fiorella Piemonte; Giulia Tozzi; Enzo Ricci; Pietro A. Tonali; Gabriella Silvestri

• Book ID: 116987951
• Publisher: Elsevier Science
• Year: 2007
• Tongue: English
• Weight: 333 KB
• Volume: 91
• Category: Article
• ISSN: 1096-7192
• DOI: 10.1016/j.ymgme.2006.12.004