Article
Both mutations in G6PD A- are necessary to produce the G6PD deficient phenotype.
Human molecular genetics - 1 Jun 1992
Town M, Bautista J M, Mason P J, Luzzatto L
Abstract excerpt
The high prevalence of glucose 6-phosphate dehydrogenase (G6PD) deficiency in African populations is due almost entirely to the enzyme variant A-, which differs from the wild-type G6PD B by two amino acid replacements, 68 Val-->Met and 126 Asn-->Asp. The non-deficient polymorphic variant G6PD A c...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- DNA
- Enzyme Stability
- Escherichia coli
- Glucosephosphate Dehydrogenase
- Glucosephosphate Dehydrogenase Deficiency
- Humans
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Phenotype