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Article

Complex alleles of the acid beta-glucosidase gene in Gaucher disease.

American journal of human genetics - 1 Jul 1990

Latham T, Grabowski G A, Theophilus B D, Smith F I

Abstract excerpt

Gaucher disease is inherited in an autosomal recessive manner and is the most prevalent lysosomal storage disease. Gaucher disease has marked phenotypic variation and molecular heterogeneity, and seven point mutations in the acid beta-glucosidase (beta-Glc) gene have been identified. By means of sequence-specific oligonucleotides (SSO), mutation 6433C has been detected homozygously in neuronopathic type 2 (acute)...

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Identifiers

PMID: 2349952
PMCID: PMC1683763

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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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