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Article

Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency.

Molecular genetics and metabolism - 1 Feb 2006

Tamura Hiroaki, Takahashi Tsutomu, Ban Nobuhiro, Torisu Hiroyuki, Ninomiya Haruaki, Takada Goro, Inagaki Nobuya

Abstract excerpt

Niemann-Pick type C (NPC) disease is an inherited lipid storage disorder characterized by the lysosomal accumulation of free cholesterol in affected cells. Three novel mutations in the NPC1 gene (c.3615delA, c.2000C > T, and c.2240delT) were detected in two unrelated patients with the severe phenotype of NPC. The analyses showed that the c.2240delT mutation, which causes a premature stop at codon 748, resulted in...

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Identifiers

PMID: 16143556
DOI: 10.1016/j.ymgme.2005.07.025

Genes

NPC1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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