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Title: Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis
Authors: Manco, Licínio 
Gonçalves, Paula 
Macedo-Ribeiro, Sandra 
Seabra, Carlos 
Melo, Paula 
Ribeiro, Maria Letícia 
Keywords: G6PD deficiency; Portugal; G6PD class I mutations; Dimer interface; G6PD structure; Amino acid conservation
Issue Date: 2005
Publisher: Ferrata Storti Foundation
Citation: Haematologica. 90:8 (2005) 1135-1136
Serial title, monograph or event: Haematologica
Issue: 8
Abstract: We 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 surface (G6PD Figueira da Foz).
ISSN: 0390-6078
Rights: openAccess
Appears in Collections:I&D CIAS - Artigos em Revistas Internacionais
FCTUC Ciências da Vida - Artigos em Revistas Internacionais

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