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Article

Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island.

Clinical genetics - 1 Jun 2014

Mavridou I, Cozar M, Douzgou S, Xaidara A, Lianou D, Vanier M T, Dimitriou E, Grinberg D, Vilageliu L, Michelakakis H

Abstract excerpt

Niemann-Pick type C (NPC) disease is a rare autosomal recessive lysosomal storage disease, exhibiting an extremely heterogeneous clinical phenotype. It is a cellular lipid trafficking disorder characterized by the accumulation in the lysosomal/late endosomal system of a variety of lipids, especia...

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Source

Identifiers

PMID: 23701245
DOI: 10.1111/cge.12200

Genes

NPC1
NPC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23701245-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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