Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance of PTC1-like domains in NPC1

✍ Scribed by Walter D. Park; John F. O'Brien; Patrick A. Lundquist; Daniel L. Kraft; Cate Walsh Vockley; Pamela S. Karnes; Marc C. Patterson; Karen Snow

• Publisher: John Wiley and Sons
• Year: 2003
• Tongue: English
• Weight: 255 KB
• Volume: 22
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.10255