Niemann-Pick disease type C.

Abstract:

: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.

journal_name

Curr Opin Lipidol

authors

Liscum L,Klansek JJ

doi

10.1097/00041433-199804000-00009

subject

Has Abstract

pub_date

1998-04-01 00:00:00

pages

131-5

issue

2

eissn

0957-9672

issn

1473-6535

journal_volume

9

pub_type

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