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Article

The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.

American journal of human genetics - 1 Jul 1998

Greer W L, Riddell D C, Gillan T L, Girouard G S, Sparrow S M, Byers D M, Dobson M J, Neumann P E

Abstract excerpt

Niemann-Pick type D (NPD) disease is a progressive neurodegenerative disorder characterized by the accumulation of tissue cholesterol and sphingomyelin. This disorder is relatively common in southwestern Nova Scotia, because of a founder effect. Our previous studies, using classic linkage analysis of this large extended kindred, defined the critical gene region to a 13-cM chromosome segment between D18S40 and...

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Identifiers

PMID: 9634529
DOI: 10.1086/301931
PMCID: PMC1377252

Genes

NPC1

Provenance

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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