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Article

Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.

Clinical genetics - 1 Apr 2007

Verot L, Chikh K, Freydière E, Honoré R, Vanier M T, Millat G

Abstract excerpt

Niemann-Pick type C disease (NPC), a neurovisceral disorder characterized by accumulation of unesterified cholesterol and glycolipids in the lysosomal/late endosomal system, is due to mutations on either the NPC1 or the NPC2 genes. We report the diagnosis of six unrelated patients with NPC2, all with homozygous mutations. We further attempted functional characterization of the p.P120S, p.Q146X and IVS1 + 2 t>c...

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Source

Identifiers

PMID: 17470133
DOI: 10.1111/j.1399-0004.2007.00782.x

Genes

NPC2
NPC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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