Please use this identifier to cite or link to this item:
https://hdl.handle.net/10316/13584
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Manco, Licínio | - |
dc.contributor.author | Gonçalves, Paula | - |
dc.contributor.author | Macedo-Ribeiro, Sandra | - |
dc.contributor.author | Seabra, Carlos | - |
dc.contributor.author | Melo, Paula | - |
dc.contributor.author | Ribeiro, Maria Letícia | - |
dc.date.accessioned | 2010-08-09T14:12:57Z | - |
dc.date.available | 2010-08-09T14:12:57Z | - |
dc.date.issued | 2005 | - |
dc.identifier.citation | Haematologica. 90:8 (2005) 1135-1136 | en_US |
dc.identifier.issn | 0390-6078 | - |
dc.identifier.uri | https://hdl.handle.net/10316/13584 | - |
dc.description.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). | en_US |
dc.language.iso | eng | en_US |
dc.publisher | Ferrata Storti Foundation | en_US |
dc.rights | openAccess | en_US |
dc.subject | G6PD deficiency | en_US |
dc.subject | Portugal | en_US |
dc.subject | G6PD class I mutations | en_US |
dc.subject | Dimer interface | en_US |
dc.subject | G6PD structure | en_US |
dc.subject | Amino acid conservation | en_US |
dc.title | Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis | en_US |
dc.type | article | en_US |
degois.publication.firstPage | 1135 | en_US |
degois.publication.lastPage | 1136 | en_US |
degois.publication.issue | 8 | en_US |
degois.publication.title | Haematologica | en_US |
uc.controloAutoridade | Sim | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.openairetype | article | - |
item.cerifentitytype | Publications | - |
item.grantfulltext | open | - |
item.fulltext | Com Texto completo | - |
item.languageiso639-1 | en | - |
crisitem.author.researchunit | CIAS - Research Centre for Anthropology and Health | - |
crisitem.author.researchunit | CIAS - Research Centre for Anthropology and Health | - |
crisitem.author.orcid | 0000-0002-2636-0288 | - |
crisitem.author.orcid | 0000-0002-5964-5001 | - |
Appears in Collections: | I&D CIAS - Artigos em Revistas Internacionais FCTUC Ciências da Vida - Artigos em Revistas Internacionais |
Files in This Item:
File | Description | Size | Format | |
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Two new glucose-6-phosphate dehydrogenase mutations.pdf | 191.64 kB | Adobe PDF | View/Open |
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