Article
Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency revealed by single-strand conformation and sequence analysis.
American journal of human genetics - 1 Mar 1993
Calabrò V, Mason P J, Filosa S, Civitelli D, Cittadella R, Tagarelli A, Martini G, Brancati C, Luzzatto L
Abstract excerpt
We have carried out a systematic study of the molecular basis of glucose-6-phosphate dehydrogenase (G6PD) deficiency on a sample of 53 male subjects from Calabria, in southern Italy. Our sequential approach consisted of the following steps: (1) Partial biochemical characterization was used to pin...
Topics
- Base Sequence
- Child
- DNA
- DNA, Single-Stranded
- Exons
- Genetic Variation
- Glucosephosphate Dehydrogenase
- Glucosephosphate Dehydrogenase Deficiency
- Humans
- Italy
- Kinetics
- Male
- Molecular Sequence Data
- Nucleic Acid Conformation
- Oligodeoxyribonucleotides