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Article

Niemann-Pick disease type C.

Current opinion in lipidology - 1 Apr 1998

Liscum L, Klansek J J

Abstract excerpt

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...

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Share to Carrier Proteins
Share to Chromosomes, Human, Pair 18
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9559270
DOI: 10.1097/00041433-199804000-00009

Genes

NPC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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