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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Authors | A Kahn, J Marie, J C Desbois, P Boivin |
Journal | Acta haematologica
(Acta Haematol)
Vol. 56
Issue 1
Pg. 58-64
( 1976)
ISSN: 0001-5792 [Print] Switzerland |
PMID | 822676
(Publication Type: Journal Article)
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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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