Article
Molecular heterogeneity underlying the G6PD Mediterranean phenotype.
Human genetics - 1 Mar 1992
Corcoran C M, Calabrò V, Tamagnini G, Town M, Haidar B, Vulliamy T J, Mason P J, Luzzatto L
Abstract excerpt
As part of a study aiming to define the molecular basis of glucose-6-phosphate dehydrogenase (G6PD) deficiency, we analysed a sample from a Portugese boy with a family history of favism. Although the biochemical properties of red-cell G6PD from this subject were similar to those of the common var...
Topics
- Base Sequence
- DNA Mutational Analysis
- Favism
- Genetic Variation
- Glucosephosphate Dehydrogenase
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction