Niemann-Pick C1 Disease: Correlations between NPC1 Mutations, Levels of NPC1 Protein, and Phenotypes Emphasize the Functional Significance of the Putative Sterol-Sensing Domain and of the Cysteine-Rich Luminal Loop

✍ Scribed by Gilles Millat; Christophe Marçais; Catherine Tomasetto; Karim Chikh; Anthony H. Fensom; Klaus Harzer; David A. Wenger; K. Ohno; Marie T. Vanier

• Book ID: 117853623
• Publisher: American Society of Human Genetics
• Year: 2001
• Tongue: English
• Weight: 716 KB
• Volume: 68
• Category: Article
• ISSN: 0002-9297
• DOI: 10.1086/320606