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Combined erythrocyte glucosephosphate isomerase (GPI) and glucose-6-phosphate dehydrogenase (G6PD) deficiency in an italian family

✍ Scribed by H. Arnold; G. W. Löhr; K. Hasslinger; R. Ludwig


Publisher
Springer
Year
1981
Tongue
English
Weight
356 KB
Volume
57
Category
Article
ISSN
0340-6717

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Two new variants of erythrocyte glucose 6-phosphate dehydrogenase are discovered in 3 unrelated Ashkenazi Jew patients with severe deficiency of enzyme. Both variants have a resemblance to 2 other variants in Ashkenazi: G6PD Boston and G6PD Kilgore, but have a significantly higher affinity for subst