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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.
AuthorsA Kahn, J Marie, J C Desbois, P Boivin
JournalActa haematologica (Acta Haematol) Vol. 56 Issue 1 Pg. 58-64 ( 1976) ISSN: 0001-5792 [Print] Switzerland
PMID822676 (Publication Type: Journal Article)
Chemical References
  • Glucosephosphate Dehydrogenase
Topics
  • Blood Platelets (enzymology)
  • Child
  • Erythrocytes (enzymology)
  • Favism (blood, genetics)
  • Genetic Variation
  • Glucosephosphate Dehydrogenase (blood)
  • Glucosephosphate Dehydrogenase Deficiency (blood, genetics)
  • Humans
  • Leukocytes (enzymology)
  • Male
  • Pedigree
  • Portugal

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