Article
Molecular heterogeneity of G6PD deficiency in an Amazonian population and description of four new variants.
Blood cells, molecules & diseases - 1 Jan 2000
Hamel Arno Rolf, Cabral Isabel Rosa, Sales Tereza Sueko Ide, Costa Fernando Ferreira, Olalla Saad Sara Teresinha
Abstract excerpt
To characterize the molecular variation in the glucose-6-phosphate dehydrogenase gene (G6PD), 196 asymptomatic and unrelated male G6PD-deficient blood donors from Belém, an Amazonian metropolis (Brazil), were analyzed. This deficiency was detected by horizontal agarose gel electrophoresis and quantitative spectrophotometric assay for enzyme activity. The mutations were searched by PCR/RFLP, SSCP, and direct DNA...
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