Article
Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
Human mutation - 1 Oct 2003
Park Walter D, O'Brien John F, Lundquist Patrick A, Kraft Daniel L, Vockley Cate Walsh, Karnes Pamela S, Patterson Marc C, Snow Karen
Abstract excerpt
The two known complementation groups of Niemann-Pick Type C disease, NPC1 and NPC2, result from non-allelic protein defects. Both the NPC1 and NPC2 (HE1) gene products are intimately involved in cholesterol and glycolipid trafficking and/or transport. We describe mutation analysis on samples from...
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