Article
Unproductive folding of the human G6PD-deficient variant A-.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Jan 1996
Gómez-Gallego F, Garrido-Pertierra A, Mason P J, Bautista J M
Abstract excerpt
Human glucose-6-phosphate dehydrogenase (G6PD) deficiency almost invariably results from the presence of missense mutations in the X-linked gene encoding G6PD. The common African deficient variant G6PD A- differs from the normal G6PD B by two amino acid substitutions. Only one of these mutations...
Topics
- Africa
- Genetic Variation
- Glucosephosphate Dehydrogenase
- Glucosephosphate Dehydrogenase Deficiency
- Humans
- Isomerases
- Kinetics
- Mutation
- Protein Conformation
- Protein Disulfide-Isomerases
- Protein Folding
- Recombinant Proteins
- Spectrometry, Fluorescence