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Article

Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease.

Clinica chimica acta; international journal of clinical chemistry - 30 Jan 2011

Alfonso Pilar, Pampín Sandra, García-Rodríguez Beatriz, Tejedor Teresa, Domínguez Carmen, Rodríguez-Rey Jose C, Giraldo Pilar, Pocoví Miguel

Abstract excerpt

BACKGROUND: Gaucher disease (GD) is a rare autosomal recessive disorder caused mainly by mutations in the glucocerebrosidase (GBA) gene. Great phenotypic variability has been observed among patients with the same genotype, suggesting other factors, such as polymorphic variants, might influence GD...

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Identifiers

PMID: 21087600
DOI: 10.1016/j.cca.2010.11.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21087600-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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