Article
Practical approach for characterization of glucose 6-phosphate dehydrogenase (G6PD) deficiency in countries with population ethnically heterogeneous: description of seven new G6PD mutants.
American journal of hematology - 1 Feb 2012
Moradkhani Kamran, Mekki Chadia, Bahuau Michel, Te Valerie Li Thiao, Holder Muriel, Pissard Serge, Préhu Claude, Rose Christian, Wajcman Henri, Galactéros Frédéric
Abstract excerpt
We present a rapid strategy based on Restriction Fragment Length Polymorphism (RFLP) analysis to characterize the more frequent glucose 6-phosphate dehydrogenase (G6PD) variants observed in a population with high gene flow. During a study involving more than 600 patients, we observed mainly G6PD A(-) (c.202G>A, c.376A>G; p.Val68Met, p.Asn126Asp), G6PD Mediterranean (Med) (c.563C>T, p.Ser188Phe), and G6PD Betica...
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