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Inhibition of normal red cell glucose 6-phosphate dehydrogenase (G-6-PD) by a variant enzyme, G-6-PD hamburg

✍ Scribed by Manfred Gahr; Werner Schröter

Book ID
115905446
Publisher
Elsevier Science
Year
1975
Tongue
English
Weight
360 KB
Volume
59
Category
Article
ISSN
0014-5793

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In this paper we report a male infant heterozygous for -thalassemia with a mild glucose 6 phosphate dehydrogenase deficiency. The molecular basis of this new Class III G6PD variant is a G->T mutation at nucleotide 34 in the exon 2, which predicts a Val->Leu aminoacid substitution at codon 12. We des