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Article

Molecular characterization of G6PD deficiency in Southern Italy: heterogeneity, correlation genotype-phenotype and description of a new variant (G6PD Neapolis).

British journal of haematology - 1 Jul 1997

Alfinito F, Cimmino A, Ferraro F, Cubellis M V, Vitagliano L, Francese M, Zagari A, Rotoli B, Filosa S, Martini G

Abstract excerpt

We report on the molecular basis of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Southern Italy (Campania region). Thirty-one unrelated G6PD-deficient males were analysed at DNA level for the presence of G6PD gene mutations. Nine different G6PD variants were identified, eight of which have already been described (Mediterranean, Seattle, two different A-, Santamaria, Cassano, Union and Cosenza). G6PD...

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Identifiers

PMID: 9233561
DOI: 10.1046/j.1365-2141.1997.1512967.x

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