Please use this identifier to cite or link to this item:
https://hdl.handle.net/10316/13585
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Manco, Licínio | - |
dc.contributor.author | Gonçalves, Paula | - |
dc.contributor.author | Antunes, Patrícia | - |
dc.contributor.author | Maduro, Filomena | - |
dc.contributor.author | Abade, Augusto | - |
dc.contributor.author | Ribeiro, M. Letícia | - |
dc.date.accessioned | 2010-08-10T09:16:37Z | - |
dc.date.available | 2010-08-10T09:16:37Z | - |
dc.date.issued | 2007 | - |
dc.identifier.citation | Haematologica. 92:12 (2007) 1713-1714 | en_US |
dc.identifier.issn | 0390-6078 | - |
dc.identifier.uri | https://hdl.handle.net/10316/13585 | - |
dc.description.abstract | G6PD deficiency mutational profile and haplotype diversity using 6 RFLPs (FokI/PvuII/BspHI/ PstI/BclI/NlaIII) and a (CTT)n microsatellite, were investigated in 70 G6PD-deficient Portuguese individuals. All but one G6PD A-376G/202A variants (44/45) have a single haplotype (+/+/–/+/–/+/195). G6PD Betica376G/968C alleles (n=10) have a single RFLP haplotype (+/–/–/+/–/+) and 4 different (CTT)n repeats. Age estimates based on microsatellite variation suggest that Betica mutation arose 900 generations ago. G6PD SantaMaria376G/542T allele was found on haplotype (+/–/–/+/–/+/201) and 10 G6PD variants on RFLP haplotypes (–/–/+/+/–/–), (–/–/+/+/–/+) and (–/–/+/+/+/+) | en_US |
dc.language.iso | eng | en_US |
dc.publisher | Ferrata Storti Foundation | en_US |
dc.rights | openAccess | en_US |
dc.subject | G6PD deficiency in Portugal | en_US |
dc.subject | G6PD mutations | en_US |
dc.subject | Haplotype analysis | en_US |
dc.subject | G6PD microsatellites | en_US |
dc.title | Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: an overview on the origin and evolution of mutated alleles | en_US |
dc.type | article | en_US |
degois.publication.firstPage | 1713 | en_US |
degois.publication.lastPage | 1714 | en_US |
degois.publication.issue | 12 | en_US |
degois.publication.title | Haematologica | en_US |
dc.identifier.doi | 10.3324/haematol.11670 | - |
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 |
Files in This Item:
File | Description | Size | Format | |
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Mutations and haplotype diversity.pdf | 169.38 kB | Adobe PDF | View/Open |
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