Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles

✍ Scribed by I Canals; SC Elalaoui; M Pineda; V Delgadillo; M Szlago; IC Jaouad; A Sefiani; A Chabás; MJ Coll; D Grinberg; L Vilageliu

• Book ID: 110889129
• Publisher: John Wiley and Sons
• Year: 2010
• Tongue: English
• Weight: 686 KB
• Volume: 80
• Category: Article
• ISSN: 0009-9163
• DOI: 10.1111/j.1399-0004.2010.01525.x