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Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phospha...
Manco, Licínio; Bento, Celeste; Victor, Bruno L.; Pereira, Janet; Relvas, Luís; Brito, Rui M.; Seabra, Carlos; Maia, Tabita M.; Ribeiro, M. Letícia
Date: 2016
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Origin: Estudo Geral - Universidade de Coimbra
Increased red cell distribution width in Fanconi anemia: a novel marker of stre...
Sousa, Rosa; Gonçalves, Cristina; Guerra, Isabel Couto; Costa, Emília; Fernandes, Ana; Bom-Sucesso, Maria do; Azevedo, Joana; Rodriguez, Alfredo
Date: 2016
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Origin: Estudo Geral - Universidade de Coimbra
Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis
Manco, Licínio; Gonçalves, Paula; Macedo-Ribeiro, Sandra; Seabra, Carlos; Melo, Paula; Ribeiro, Maria LetíciaWe describe two new missense mutations in the glucose-6-phosphate dehydrogenase (G6PD) gene associated with chronic hemolytic anemia: mutation 1205CÆÆA in exon 10 predicts the amino acid change 402ThrÆÆAsn in the bb-sheet M of the polypeptide chain, within the dimer interface (G6PD Covão do Lobo); mutation 1366GÆÆA in exon 12 predicts the amino acid substitution 456AspÆÆHis in the aa-helix N, at the protein sur...
Date: 2005
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Origin: Estudo Geral - Universidade de Coimbra