An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II

✍ Scribed by B. Tappino; S. Regis; F. Corsolini; M. Filocamo

• Book ID: 116988164
• Publisher: Elsevier Science
• Year: 2008
• Tongue: English
• Weight: 525 KB
• Volume: 93
• Category: Article
• ISSN: 1096-7192
• DOI: 10.1016/j.ymgme.2007.09.010