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Curr Opin Lipidol. 1998 Apr;9(2):131-5.

Niemann-Pick disease type C.

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Department of Physiology, Tufts University School of Medicine, Boston, MA 02111, USA.


Niemann-Pick type C (NPC) is an autosomal recessive lysosomal storage disease. Fibroblasts from individuals with Niemann-Pick type C exhibit defective intracellular cholesterol transport. Linkage analysis has led to the recent cloning of the NPC1 gene on human chromosome 18, which is the major disease locus. Analysis of NPC1 reveals homologies with key regulators of cholesterol homeostasis and a Drosophila morphogen receptor.

[Indexed for MEDLINE]

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