Article
Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis.
Haematologica - 1 Aug 2005
Manco Licínio, Gonçalves Paula, Macedo-Ribeiro Sandra, Seabra Carlos, Melo Paula, Ribeiro Maria Letícia
Abstract excerpt
We describe two new missense mutations in the glucose-6-phosphate dehydrogenase (G6PD) gene associated with chronic hemolytic anemia: mutation 1205C-->A in exon 10 predicts the amino acid change 402Thr-->Asn in the b-sheet M of the polypeptide chain, within the dimer interface (G6PD Covão do Lobo); mutation 1366G-->A in exon 12 predicts the amino acid substitution 456Asp-->His in the a-helix N, at the protein...
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