Favism in a Portuguese Family Due to a Deficient Glucose-6-Phosphate Dehydrogenase Variant of ‘Canton’ or ‘Canton-Like’ Type

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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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