Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann–Pick disease type C

✍ Scribed by Alavi, Afagh; Nafissi, Shahriar; Shamshiri, Hosein; Nejad, Maryam Malakooti; Elahi, Elahe

• Book ID: 122585196
• Publisher: Elsevier Science
• Year: 2013
• Tongue: English
• Weight: 853 KB
• Volume: 110
• Category: Article
• ISSN: 1096-7192
• DOI: 10.1016/j.ymgme.2013.05.019