Two new class III G6PD variants [G6PD Tunis (c.920A>C: p.307Gln>Pro) and G6PD Nefza (c.968T>C: p.323 Leu>Pro)] and overview of the spectrum of mutations in Tunisia

Autor: Henri Wajcman, Abderraouf Ghanem, Kamran Moradkhani, Imen Moumni, Salem Abbes, Claude Préhu, Raouf Hafsia, Ikbel Benmansour

Publikováno v: Blood Cells, Molecules and Diseases
Blood Cells, Molecules and Diseases, Elsevier, 2012, 50 (2), pp.110-114. ⟨10.1016/j.bcmd.2012.08.005⟩

We screened 423 patients referred to our laboratory after hemolysis triggered by fava beans ingestion, neonatal jaundice or drug hemolysis. Others were asymptomatic but belonged to a family with a history of G6PD deficiency. The determination of enzy

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https://hal-riip.archives-ouvertes.fr/pasteur-00732993/document