Article
Muscle expression of glucose-6-phosphate dehydrogenase deficiency in different variants.
Clinical genetics - 1 Nov 1995
Ninfali P, Baronciani L, Bardoni A, Bresolin N
Abstract excerpt
Muscle expression of G6PD deficiency has been investigated in Mediterranean, Seattle-like and A-variants. G6PD activity was detected in samples obtained from biopsies on the quadriceps muscle of seven males and one female. The type of genetic variant was determined by molecular analysis of DNA, extracted from blood samples. All variants showed the enzyme defect in muscle. A statistically significant relationship...
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