Article
Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.
Human mutation - 1 Jul 2005
Chikh Karim, Rodriguez Céline, Vey Sébastien, Vanier Marie T, Millat Gilles
Abstract excerpt
Niemann-Pick disease type C (NPC), a severe neurovisceral lysosomal disorder, is due to mutations on the NPC1 gene or, in a minority of families, the NPC2 gene. Few investigations have been devoted to the NPC2 protein, for which only 13 different disease-causing mutations (including three novel ones in this report) have been described. Among the currently known NPC2 mutant alleles, six resulted in a premature...
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