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Glucose-6-phosphate dehydrogenase deficiency in Portugal: biochemical and mutational profiles, heterogeneity, and haplotype association.

Blood cells, molecules & diseases - 1 Jan 2000

Rodrigues Maria-Odete, Freire Ana Ponces, Martins Gisela, Pereira Júlia, Martins Maria-do-Carmo, Monteiro Carolino

Abstract excerpt

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. This deficiency in erythrocytes has a prevalence of 0.51 +/- 0.109 in the Caucasoid male population of Portugal. The frequency for deficiency-conferring genes is 0.39% in the Portuguese population. In the herein study populations males from areas of Portugal presenting with the highest prevalence of G6PD deficiency (Castelo...

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PMID: 12064920
DOI: 10.1006/bcmd.2002.0505

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