G6PD Aures: a new mutation (48 Ile-->Thr) causing mild G6PD deficiency is associated with favism

Hum Mol Genet. 1993 Jan;2(1):81-2. doi: 10.1093/hmg/2.1.81.

Authors

K Nafa¹, A Reghis, N Osmani, L Baghli, M Benabadji, J C Kaplan, T J Vulliamy, L Luzzatto

Affiliation

¹ Centre de Transfusion Sanguine, CHU Mustapha, Alger, Algeria.

PMID: 8490627
DOI: 10.1093/hmg/2.1.81

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Sequence
Base Sequence
Child
DNA / genetics
DNA / isolation & purification
Erythrocytes / enzymology
Exons
Favism / blood
Favism / enzymology
Favism / genetics*
Female
Glucosephosphate Dehydrogenase / blood
Glucosephosphate Dehydrogenase / genetics*
Glucosephosphate Dehydrogenase Deficiency / blood
Glucosephosphate Dehydrogenase Deficiency / enzymology
Glucosephosphate Dehydrogenase Deficiency / genetics*
Humans
Kinetics
Male
Molecular Sequence Data
Point Mutation*
Polymerase Chain Reaction

Substances

DNA
Glucosephosphate Dehydrogenase