Please use this identifier to cite or link to this item: https://hdl.handle.net/10316/13584
DC FieldValueLanguage
dc.contributor.authorManco, Licínio-
dc.contributor.authorGonçalves, Paula-
dc.contributor.authorMacedo-Ribeiro, Sandra-
dc.contributor.authorSeabra, Carlos-
dc.contributor.authorMelo, Paula-
dc.contributor.authorRibeiro, Maria Letícia-
dc.date.accessioned2010-08-09T14:12:57Z-
dc.date.available2010-08-09T14:12:57Z-
dc.date.issued2005-
dc.identifier.citationHaematologica. 90:8 (2005) 1135-1136en_US
dc.identifier.issn0390-6078-
dc.identifier.urihttps://hdl.handle.net/10316/13584-
dc.description.abstractWe 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).en_US
dc.language.isoengen_US
dc.publisherFerrata Storti Foundationen_US
dc.rightsopenAccessen_US
dc.subjectG6PD deficiencyen_US
dc.subjectPortugalen_US
dc.subjectG6PD class I mutationsen_US
dc.subjectDimer interfaceen_US
dc.subjectG6PD structureen_US
dc.subjectAmino acid conservationen_US
dc.titleTwo new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysisen_US
dc.typearticleen_US
degois.publication.firstPage1135en_US
degois.publication.lastPage1136en_US
degois.publication.issue8en_US
degois.publication.titleHaematologicaen_US
uc.controloAutoridadeSim-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.openairetypearticle-
item.cerifentitytypePublications-
item.grantfulltextopen-
item.fulltextCom Texto completo-
item.languageiso639-1en-
crisitem.author.researchunitCIAS - Research Centre for Anthropology and Health-
crisitem.author.researchunitCIAS - Research Centre for Anthropology and Health-
crisitem.author.orcid0000-0002-2636-0288-
crisitem.author.orcid0000-0002-5964-5001-
Appears in Collections:I&D CIAS - Artigos em Revistas Internacionais
FCTUC Ciências da Vida - Artigos em Revistas Internacionais
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