Article
Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.
Molecular genetics and metabolism - 1 Jan 2000
Millat Gilles, Baïlo Nathalie, Molinero Sabine, Rodriguez Céline, Chikh Karim, Vanier Marie T
Abstract excerpt
Niemann-Pick disease type C (NPC), a neurovisceral disorder characterized by accumulation of unesterified cholesterol and glycolipids in the lysosomal/late endosomal system, is due to mutations on either the NPC1 or the NPC2 genes. While the corresponding proteins appear essential for proper cellular cholesterol trafficking, their precise function and relationship are still unclear. Mutational analysis of...
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