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Article

Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene.

American journal of human genetics - 1 Aug 1990

Dahl N, Lagerström M, Erikson A, Pettersson U

Abstract excerpt

Three major forms (types I-III) of Gaucher disease (GD) have been identified. The largest group of patients with type III GD has been reported from the province of Norrbotten in Sweden. In the present study the genomes from two GD patients of Norrbottnian origin were examined for abnormalities in the glucocerebrosidase gene. In both individuals, a single nucleotide substitution was found in exon 10. This...

Topics

Base Sequence
DNA
DNA Probes
Deoxyribonuclease EcoRI
Exons
Female
Gaucher Disease
Glucosidases
Glucosylceramidase
Heterozygote
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 2378352
PMCID: PMC1683716

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2378352-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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