Favism in a Portuguese family due to a deficient glucose-phosphate dehydrogenase variant (Canton) or (cpanton-like) type
- PMID: 822676
- DOI: 10.1159/000207919
Favism in a Portuguese family due to a deficient glucose-phosphate dehydrogenase variant (Canton) or (cpanton-like) type
Abstract
In a Portuguese boy with favism G-6PD deficiency was found. Deficiency was due to a G-6PD variant close or identical to Canton-type G-6PD. The muted protein had a lowered catalytic activity and furthermore, was unstable. The post-translational modifications undergone by this deficient G-6PD variant are described.
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