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Genetic variation in a gene involved in glycosphingolipid lipid biosynthesis

2013-10-24Conference object Open access
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dc.contributor.authorAmaral, Olga
dc.contributor.authorDuarte, Ana Joana
dc.contributor.authorPinto, Eugenia
dc.contributor.authorRibeiro, I.
dc.contributor.authorLopes, Lurdes
dc.contributor.authorRibeiro, Diogo
dc.date.accessioned2014-03-10T13:03:25Z
dc.date.available2014-03-10T13:03:25Z
dc.date.issued2013-10-24
dc.descriptionPoster publicado em: American Society of Human Genetics 63rd Annual Meeting October 22–26, 2013 Boston: posters/abstracts. Poster_Metabolic Disorders, p. 327.por
dc.description.abstractIn this work we presented the identification and distribution of genetic variations among the control samples studied. The results obtained with the different samples showed the existence of several polymorphic changes. Polymorphisms in the UGCG gene may interfere with the amount of substrate available for degradation in specific diseases along the same pathway. Thus,the degree of genetic variability might influence the phenotypic expression as well as the lysosomal burden. Conclusion: Assessment of variation in the UGCG gene should be considered, particularly in patients who do not comply with the expected genotype/phenotype correlations.por
dc.description.sponsorshipThis work was carried out at UID-P from DGH, with financial support obtained from FCT- Portugal: project PIC/IC/82822/2007(2009-2012)por
dc.identifier.urihttp://hdl.handle.net/10400.18/1980
dc.language.isoengpor
dc.peerreviewednopor
dc.relationPIC/IC/82822/2007 (FCT)por
dc.relation.publisherversionhttp://www.ashg.org/2013meeting/pdf/46025_Poster_bookmark%20for%20Web%20final%20from%20AGS.pdfpor
dc.subjectUGCGpor
dc.subjectGlycosphingolipidpor
dc.subjectGenetic Diseasespor
dc.subjectGenética Humanapor
dc.subjectGenetic Variationpor
dc.subjectGaucherpor
dc.subjectDoenças Genéticaspor
dc.titleGenetic variation in a gene involved in glycosphingolipid lipid biosynthesispor
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceBoston, EUApor
oaire.citation.title63rd Annual Meeting of The American Society of Human Genetics (ASHG), 22-26 October, 2013por
rcaap.rightsclosedAccesspor
rcaap.typeconferenceObjectpor

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