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Article

Multi-mutational analysis of fifteen common mutations of the glucose 6-phosphate dehydrogenase gene in the Mediterrranean population.

Clinica chimica acta; international journal of clinical chemistry - 1 Sept 2008

Farez-Vidal Ma Esther, Gandia-Pla Sandra, Blanco Sonia, Gómez-Llorente Carolina, Gómez-Capilla Jose Antonio

Abstract excerpt

BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defence against oxidizing agents and in reductive biosynthetic reactions. Many variants of G6PD have been described, mostly produced from missense mutations, with wide ranging levels of enzyme activity and associated clinical...

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Identifiers

PMID: 18549810
DOI: 10.1016/j.cca.2008.05.014

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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