Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID)

✍ Scribed by Clare E. Beesley; Daniela Concolino; Mirella Filocamo; Bryan G. Winchester; Pietro Strisciuglio

• Book ID: 116987906
• Publisher: Elsevier Science
• Year: 2007
• Tongue: English
• Weight: 386 KB
• Volume: 90
• Category: Article
• ISSN: 1096-7192
• DOI: 10.1016/j.ymgme.2006.07.014