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

Author:

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

Publisher

Elsevier BV

Subject

Cell Biology,Hematology,Molecular Biology,Molecular Medicine

Reference28 articles.

1. G6PD deficiency: the genotype–phenotype association;Mason;Blood Rev.,2007

2. Molecular characterization of G6PD deficiency in Cyprus;Drousiotou;Blood Cells Mol. Dis.,2004

3. Glucose-6-phosphate dehydrogenase (G6PD) mutations database: review of the “old” and update of the new mutations;Minucci;Blood Cells Mol. Dis.,2012

4. Origin and spread of the glucose-6-phosphate dehydrogenase variant (G6PD-Mediterranean) in the Middle East;Kurdi-Haidar;Am. J. Hum. Genet.,1990

5. Structure and function of glucose-6-phosphate dehydrogenase-deficient variants in Chinese population;Jiang;Hum. Genet.,2006

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