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Article

Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in Italy.

Haematologica - 1 Jan 2000

Martinez di Montemuros F, Dotti C, Tavazzi D, Fiorelli G, Cappellini M D

Abstract excerpt

BACKGROUND: Glucose-6-phosphate dehydrogenase deficiency, one of the most common human enzymatic defects, is characterized by extreme molecular and biochemical heterogeneity. The molecular bases of almost all polymorphic italian variants have now been identified and the overall heterogeneity is lower than expected from biochemical data. METHODS: We examined 161 G6PD-deficient subjects (130 males and 31 females)...

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PMID: 9299858

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