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Multiple G6PD mutations are associated with a clinical and biochemical phenotype similar to that of G6PD Mediterranean.

Blood - 1 May 1996

Cappellini M D, Martinez di Montemuros F, De Bellis G, Debernardi S, Dotti C, Fiorelli G

Abstract excerpt

Glucose-6-phosphate dehydrogenase (G6PD) deficiency, one of the most common red cell abnormalities, is characterized by a wide clinical, biochemical, and molecular heterogeneity. In this study we have determined the molecular basis of G6PD deficiency in a sample of 70 male subjects, originating from different parts of Italy, who all shared a clinical and biochemical phenotype identical or very similar to that of...

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PMID: 8611726

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Multiple G6PD mutations are associated with a clinical and biochemical phenotype similar to that of G6PD Mediterranean.PMID 8611726Read ↗

Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in Italy.Semantic proximity Read ↗

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Molecular heterogeneity underlying the G6PD Mediterranean phenotype.Semantic proximity Read ↗

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Molecular genetics of the glucose-6-phosphate dehydrogenase (G6PD) Mediterranean variant and description of a new G6PD mutant, G6PD Andalus1361A.Semantic proximity Read ↗

G6PD Potenza: A Novel Pathogenic Variant Broadens the Mutational Landscape in the Italian PopulationSemantic proximity Read ↗

Practical approach for characterization of glucose 6-phosphate dehydrogenase (G6PD) deficiency in countries with population ethnically heterogeneous: description of seven new G6PD mutants.Semantic proximity Read ↗

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