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Article

NPC-db, a Niemann-Pick type C disease gene variation database.

Human mutation - 1 Mar 2008

Runz Heiko, Dolle Dirk, Schlitter Anna Melissa, Zschocke Johannes

Abstract excerpt

Niemann-Pick type C (NPC) disease is a rare autosomal-recessive lysosomal storage disease typically accompanied by progressive impairment of nervous system and liver function. Biochemically, the disorder presents with an inhibited egress of cholesterol and glycosphingolipids from endosomal and ly...

Read the complete abstract on PubMed

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18081003
DOI: 10.1002/humu.20636

Genes

NPC1
NPC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18081003-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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