DNA sequencing revealed seven different glucose-6-phosphate dehydrogenase (G6PD) mutations in G6PD deficient subjects from 10 Polish families. Among them we found two novel mutations: 679C-->T (G6PD Radlowo, class 2) and a 1006A-->G (G6PD Torun, class 1). Variant G6PD Radlowo was characterized biochemically.
View Article and Find Full Text PDFStudies 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.
View Article and Find Full Text PDFThe ATP level and pyruvate kinase (PK) activity were measured in red cells of 21 dogs. The obtained results are: ATP -- 732 +/- 197.3 mumoles/1 RBC, PK -- 919 +/- 452.
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