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

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

• Book ID: 122775049
• Publisher: Elsevier Science
• Year: 2013
• Tongue: English
• Weight: 586 KB
• Volume: 517
• Category: Article
• ISSN: 0378-1119
• DOI: 10.1016/j.gene.2012.12.100