Niemann-Pick C Variant Detection by Altered Sphingolipid Trafficking and Correlation with Mutations within a Specific Domain of NPC1

✍ Scribed by Xiaofeng Sun; David L. Marks; Walter D. Park; Christine L. Wheatley; Vishwajeet Puri; John F. O’Brien; Daniel L. Kraft; Patrick A. Lundquist; Marc C. Patterson; Richard E. Pagano; Karen Snow

• Book ID: 117853619
• Publisher: American Society of Human Genetics
• Year: 2001
• Tongue: English
• Weight: 456 KB
• Volume: 68
• Category: Article
• ISSN: 0002-9297
• DOI: 10.1086/320599