Mutant forms of erythrocyte glucose 6-phosphate dehydrogenase in Ashkenazi. Description of two new variants: G6PD kirovograd and G6PD zhitomir.

Autor: Shatskaya, T., Krasnopolskaya, K., Idelson, L.
Zdroj: Human Genetics; 1976, Vol. 33 Issue 2, p175-178, 4p
Abstrakt: Two new variants of erythrocyte glucose 6-phosphate dehydrogenase are discovered in 3 unrelated Ashkenazi Jew patients with severe deficiency of enzyme. Both variants have a resemblance to 2 other variants in Ashkenazi: G6PD Boston and G6PD Kilgore, but have a significantly higher affinity for substrates and their analogues and are not associated with chronic hemolytic disease. Probably, all 4 variants arise from two ancestral mutations. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index