Article
Molecular abnormalities of a human glucose-6-phosphate dehydrogenase variant associated with undetectable enzyme activity and immunologically cross-reacting material.
American journal of human genetics - 1 Aug 1992
Maeda M, Constantoulakis P, Chen C S, Stamatoyannopoulos G, Yoshida A
Abstract excerpt
Among a large number of glucose-6-phosphate dehydrogenase (G6PD) variants associated with different severity of clinical manifestations, enzyme deficiency, and kinetic abnormalities found in humans, only one variant exhibits no measurable activity and lacks an immunologically cross-reacting material in blood cells and other tissues. The mRNA content of the patient's lymphoblastoid cells was found to be normal,...
Topics
- Base Sequence
- Blotting, Northern
- Blotting, Southern
- Blotting, Western
- Cell Line, Transformed
- Cloning, Molecular
- Cross Reactions
- DNA
- Escherichia coli
- Genetic Variation