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Article

Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients.

Annals of human genetics - 1 Jan 2003

Sikora J, Pavlu-Pereira H, Elleder M, Roelofs H, Wevers R A

Abstract excerpt

We have analyzed acid sphingomyelinase (SMPD1; E.C. 3.1.4.12) gene mutations in four Niemann-Pick disease (NPD) type A and B patients of Turkish ancestry and in three patients of Dutch origin. Among four NPD type A patients we found two homozygotes for the g.1421C > T (H319Y) and g.3714T > C (Y537H) mutations and two compound heterozygotes, one for the g.3337T > C (F463S) and g.3373C > T (P475L) mutations and the...

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Source

Identifiers

PMID: 12556236
DOI: 10.1046/j.1469-1809.2003.00009.x

Genes

SMPD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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