Literature DB >> 822676

Favism in a Portuguese family due to a deficient glucose-phosphate dehydrogenase variant (Canton) or (cpanton-like) type.

A Kahn, J Marie, J C Desbois, P Boivin.   

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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Year:  1976        PMID： 822676     DOI： 10.1159/000207919

Source DB:  PubMed          Journal:  Acta Haematol        ISSN： 0001-5792            Impact factor:   2.195


  3 in total

1.  GD (--) Aachen, a new variant of deficient glucose-6-phosphate dehydrogenase. Clinical, genetic, biochemical aspects.

Authors:  A Kahn; A Esters; M Habedank
Journal:  Hum Genet       Date:  1976-05-19       Impact factor: 4.132

2.  'GPI Roma', a new glucose phosphate isomerase deficient variant: in vivo occurrence of postsynthetic modifications of the mutant enzyme.

Authors:  G Isacchi; D Cottreau; F Mandelli; G Papa; F Ciccone; A Kahn
Journal:  Hum Genet       Date:  1979-01-25       Impact factor: 4.132

3.  Glucose-6-phosphate dehydrogenase variants associated with favism in Thai children.

Authors:  Vichai Laosombat; Benjamas Sattayasevana; Teerachit Chotsampancharoen; Malai Wongchanchailert
Journal:  Int J Hematol       Date:  2006-02       Impact factor: 2.490
  3 in total

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