Article
Erythrocyte glucose-6-phosphate dehydrogenase deficiency in Poland--a study on the 563 and 1311 mutations of the G6PD gene.
European journal of human genetics : EJHG - 1 Jan 2000
Jabłońska-Skwiecińska E, Zimowski J G, Kłopocka J, Bisko M, Hoffman-Zacharska D, Zaremba J
Abstract excerpt
Studies on the mutation 563T and silent mutation 1311T of the glucose-6-phosphate dehydrogenase (G6PD) gene in Poland were performed in 26 families affected with G6PD deficiency classified-according to WHO-as group 2 G6PD deficiency. Both mutations were found in 19 families, including 17 of Polish origin. Mutation 563T alone was found in 1 Greek female. The frequency of the silent mutation 1311T in Polish...
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