title: 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.
mesh_terms: D001792:Blood Platelets / Q000201:enzymology; D002648:Child; D004912:Erythrocytes / Q000201:enzymology; D005236:Favism / Q000097:blood / Q000235:genetics*; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000097:blood; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000097:blood / Q000235:genetics*; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D010375:Pedigree; D011174:Portugal
chemical_list: D005954:Glucosephosphate Dehydrogenase