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Novel point mutation in exon 12 of the glucose-6- phosphate dehydrogenase gene: G6PD FLORES

2004-03-29Journal article Restricted access
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dc.contributor.authorRodrigues, M.O.
dc.contributor.authorPereira, J.D.
dc.contributor.authorGaspar, G.
dc.contributor.authorOlim, G.
dc.contributor.authorMartins, M.C.
dc.contributor.authorMonteiro, C.
dc.date.accessioned2012-01-03T14:55:01Z
dc.date.available2012-01-03T14:55:01Z
dc.date.issued2004-03-29
dc.description.abstractIn Portugal there are a wide variety of G6PD deficiency associated mutations. In an individual from the island of Flores of the Azorean archipelago, we report a new mutation in the G6PD gene that gives rise to a "moderate rate of G6PD deficiency" (12.6% of the normal activity) according to WHO criteria. Direct sequencing revealed a C-->A point mutation at position 1387 with the consequent substitution of an Argine by Serine. We designated this new mutation as G6PD FLORES. The mutation is associated with haplotype I ( - - + + - - ), using six intragenic RFLPs. This information may also be seen as contributing to the clarification of the genetic makeup of the Azorean population, founder mutations, and/or gene flow.por
dc.identifier.citationJ Clin Lab Anal. 2004;18(2):129-31por
dc.identifier.issn0887-8013
dc.identifier.otherdoi:10.1002/jcla.20010
dc.identifier.urihttp://hdl.handle.net/10400.18/347
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherWiley Blackwellpor
dc.relation.publisherversionhttp://onlinelibrary.wiley.com/doi/10.1002/jcla.20010/abstract;jsessionid=CEE4B645C6864185ED9DCE1CEB397BCA.d03t04?systemMessage=Wiley+Online+Library+will+be+disrupted+3+Dec+from+10-12+GMT+for+monthly+maintenancepor
dc.subjectHaplotypepor
dc.subjectLinkage desequilibriumpor
dc.subjectAzorespor
dc.subjectPortugalpor
dc.subjectPatologias do Glóbulo Vermelhopor
dc.titleNovel point mutation in exon 12 of the glucose-6- phosphate dehydrogenase gene: G6PD FLORESpor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage131por
oaire.citation.startPage129por
oaire.citation.titleJournal of Clinical Laboratory Analysispor
rcaap.rightsrestrictedAccesspor
rcaap.typearticlepor

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