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A new variant of human erythrocyte glucose-6-phosphate dehydrogenase: G6PD port Elizabeth

✍ Scribed by D. Balinsky; E. Cayanis; G. Carter; T. Jenkins; I. Bersohn

Book ID
107769911
Publisher
Elsevier Science
Year
1973
Tongue
English
Weight
806 KB
Volume
4
Category
Article
ISSN
0020-711X

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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