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Article

Mutations in the gene encoding cytosolic beta-glucosidase in Gaucher disease.

The Journal of laboratory and clinical medicine - 1 Aug 2004

Beutler Ernest, Beutler Lisa, West Carol

Abstract excerpt

Patients with Gaucher disease have a deficiency of the lysosomal acid beta-glucosidase. The phenotypes of genotypically identical patients with Gaucher disease may differ markedly. We have examined the possibility that polymorphisms in another beta-glucosidase are responsible for this variability in the phenotype. Sequence analysis of the gene encoding cytosolic beta-glucosidase (GBA3) from 4 chromosomes revealed...

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Identifiers

PMID: 15322500
DOI: 10.1016/j.lab.2004.03.013

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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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