Niemann–Pick type C disease: Novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency

✍ Scribed by Hiroaki Tamura; Tsutomu Takahashi; Nobuhiro Ban; Hiroyuki Torisu; Haruaki Ninomiya; Goro Takada; Nobuya Inagaki

• Book ID: 116987711
• Publisher: Elsevier Science
• Year: 2006
• Tongue: English
• Weight: 854 KB
• Volume: 87
• Category: Article
• ISSN: 1096-7192
• DOI: 10.1016/j.ymgme.2005.07.025