G6PD Aures: a new mutation (48 lle → Thr) causing mild G6PD deficiency is associated with favism

We report a new mutation in the G6PD gene, discovered during a survey of the molecular basis of G6PD deficiency in Algeria. This mutation is responsible for a mild deficient phenotype (7-10% of G6PD residual activity), but it too is associated with favism.

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Bibliographic Details
Published in:Human molecular genetics 1993-01, Vol.2 (1), p.81-82
Main Authors: Nafa, Khedoudja, Reghis, Abderrezak, Osmani, Naima, Baghli, Lamia, Benabadji, Mohamed, Kaplan, Jean-Claude, Vulliamy, Thomas J., Luzzatto, Lucio
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Base Sequence
Biological and medical sciences
Child
deficiency
DNA - genetics
DNA - isolation & purification
Errors of metabolism
Erythrocytes - enzymology
Exons
Favism - blood
Favism - enzymology
Favism - genetics
Female
glucose-6-phosphate 1-dehydrogenase
Glucosephosphate Dehydrogenase - blood
Glucosephosphate Dehydrogenase - genetics
Glucosephosphate Dehydrogenase Deficiency - blood
Glucosephosphate Dehydrogenase Deficiency - enzymology
Glucosephosphate Dehydrogenase Deficiency - genetics
Humans
Kinetics
Male
man
Medical sciences
Metabolic diseases
Miscellaneous hereditary metabolic disorders
Molecular Sequence Data
mutation
Point Mutation
Polymerase Chain Reaction
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Description
Summary:We report a new mutation in the G6PD gene, discovered during a survey of the molecular basis of G6PD deficiency in Algeria. This mutation is responsible for a mild deficient phenotype (7-10% of G6PD residual activity), but it too is associated with favism.
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/2.1.81