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dc.contributor.authorMOLLOY, ANNE MARIE
dc.contributor.authorSCOTT, JOHN MARTIN
dc.date.accessioned2009-11-04T09:58:00Z
dc.date.available2009-11-04T09:58:00Z
dc.date.issued2004
dc.date.submitted2004en
dc.identifier.citationP.N. Kirke, J.L. Mills, A.M. Molloy, L.C. Brody, V.B. O'Leary, L. Daly, S. Murray, M. Conley, P.D. Mayne, O. Smith, J.M. Scott `Impact of the MTHFR C677T polymorphism on risk of neural tube defects:case-control study? in British Medical Journal, 328, 2004, pp 1535 - 1536en
dc.identifier.otherY
dc.identifier.other33726
dc.identifier.otherYen
dc.identifier.urihttp://hdl.handle.net/2262/34500
dc.descriptionPUBLISHEDen
dc.description.abstractHomozygosity for the T allele of the C677T polymorphism of the gene encoding the folate dependent enzyme 5,10-methylenetetrahydrofolate reductase (MTHFR) is a risk factor for neural tube defects.1 Both the homozygous (TT) and heterozygous (CT) genotypes are associated with lower tissue concentrations of folate, higher homocysteine concentrations, and lower enzyme activity than the wild type (CC) genotype; these effects are more marked in homozygotes. Low folate and raised homocysteine levels in early pregnancy are risk factors for neural tube defects.2 We investigated the possibility that the CT genotype would also increase the risk of these malformations.en
dc.format.extent1535en
dc.format.extent1536en
dc.format.extent76446 bytes
dc.format.mimetypeapplication/pdf
dc.language.isoenen
dc.publisherBMJen
dc.relation.ispartofseriesBritish Medical Journalen
dc.relation.ispartofseries328en
dc.rightsYen
dc.subjectClinical Medicineen
dc.titleImpact of the MTHFR C677T polymorphism on risk of neural tube defects:case-control studyen
dc.typeJournal Articleen
dc.contributor.sponsorHealth Research Board
dc.type.supercollectionscholarly_publicationsen
dc.type.supercollectionrefereed_publicationsen
dc.identifier.peoplefinderurlhttp://people.tcd.ie/amolloy
dc.identifier.rssurihttp://dx.doi.org/10.1136/bmj.38036.646030.EE


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