Please use this identifier to cite or link to this item:
https://hdl.handle.net/10316/13583
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Manco, Licínio | - |
dc.contributor.author | Relvas, Luís | - |
dc.contributor.author | Pinto, C. Silva | - |
dc.contributor.author | Pereira, Janet | - |
dc.contributor.author | Almeida, A. Bessa | - |
dc.contributor.author | Ribeiro, M. Letícia | - |
dc.date.accessioned | 2010-08-09T13:51:49Z | - |
dc.date.available | 2010-08-09T13:51:49Z | - |
dc.date.issued | 2006 | - |
dc.identifier.citation | Haematologica. 91:2 (2006) 266-267 | en_US |
dc.identifier.issn | 0390-6078 | - |
dc.identifier.uri | https://hdl.handle.net/10316/13583 | - |
dc.description.abstract | Four different gene mutations were identified in five unrelated Portuguese patients with pyrimidine 5’-nucleotidase type I (P5’N-I) deficient chronic hemolytic anemia. Mutations 502G®C (168 Gly®Arg), 773T®C (258Ile®Thr) and the insertion of an Alu element in exon 9, leading to skipping of this exon in the mRNA transcript, are newly described mutations whereas mutation 425T®C (142Leu®Pro) has been previously reported. | en_US |
dc.language.iso | eng | en_US |
dc.publisher | Ferrata Storti Foundation | en_US |
dc.rights | openAccess | en_US |
dc.subject | Pyrimidine 5’-nucleotidase deficiency | en_US |
dc.subject | Hemolytic anemia | en_US |
dc.subject | P5’N-I gene | en_US |
dc.subject | Alu insertion | en_US |
dc.subject | RT-PCR analysis | en_US |
dc.title | Molecular characterization of five Portuguese patients with pyrimidine 5’-nucleotidase deficient hemolytic anemia showing three new P5’N-I mutations | en_US |
dc.type | article | en_US |
degois.publication.firstPage | 266 | en_US |
degois.publication.lastPage | 267 | en_US |
degois.publication.issue | 2 | en_US |
degois.publication.title | Haematologica | en_US |
uc.controloAutoridade | Sim | - |
item.grantfulltext | open | - |
item.fulltext | Com Texto completo | - |
item.openairetype | article | - |
item.languageiso639-1 | en | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.cerifentitytype | Publications | - |
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 |
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File | Description | Size | Format | |
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Molecular characterization of five Portuguese.pdf | 159.21 kB | Adobe PDF | View/Open |
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