Identification of a novel missense mutation in Brazilian patient with a severe form of mucopolysaccharidosis type IVA

✍ Scribed by Leistner-Segal, Sandra; Kubaski, Francyne; Brusius-Facchin, Ana Carolina; Palhares, Heloísa M.C.; Balarin, Marly Aparecida Spadotto; Viapiana-Camelier, Marli; Guidobono, Regis; Burin, Maira Graeff; Giugliani, Roberto

• Book ID: 123396192
• Publisher: Elsevier Science
• Year: 2013
• Tongue: English
• Weight: 77 KB
• Volume: 108
• Category: Article
• ISSN: 1096-7192
• DOI: 10.1016/j.ymgme.2012.11.148