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THU0480 Candidate gene discovery in autoimmunity by using extreme phenotypes and whole exome capture

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dc.creatorArcos-Burgos, M.spa
dc.creatorJohar, A.spa
dc.creatorAmaya-Amaya, J.spa
dc.creatorMantilla, R.D.spa
dc.creatorAndrews, D.spa
dc.creatorRojas-Villarraga, A.spa
dc.creatorAnaya, Juan-Manuelspa
dc.date.accessioned2020-08-06T16:24:04Z
dc.date.available2020-08-06T16:24:04Z
dc.date.created2014-06spa
dc.description.abstractBackground The multiple autoimmune syndrome (MAS) is defined as a condition characterized by the presence of three or more autoimmune diseases (ADs) in one patient. We demonstrated that MAS identifies extreme forms of ADs and is frequently clustered in families. MAS phenotypes present in families often displays Mendelian segregation ratios, representing crucial evidence for identifying major genes associated with autoimmunity.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1136/annrheumdis-2014-eular.4809
dc.identifier.issnISSN: 0959-8138
dc.identifier.issnEISSN: 1756-1833
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/26447
dc.language.isoengspa
dc.publisherBMJ Publishing Groupspa
dc.relation.citationIssueNo. Suppl 2
dc.relation.citationStartPage349
dc.relation.citationTitleAnnals of the Rheumatic Diseases
dc.relation.citationVolumeVol. 73
dc.relation.ispartofAnnals of the Rheumatic Diseases, ISSN:0959-8138 ; EISSN:1756-1833, Vol.73, No.Suppl 2 (2014-06); pp.349spa
dc.relation.urihttps://ard.bmj.com/content/73/Suppl_2/349.2spa
dc.rights.accesRightsinfo:eu-repo/semantics/closedAccess
dc.rights.accesoBloqueado (Texto referencial)spa
dc.sourceAnnals of the Rheumatic Diseasesspa
dc.source.instnameinstname:Universidad del Rosario
dc.source.reponamereponame:Repositorio Institucional EdocUR
dc.subject.keywordautoimmune syndromespa
dc.subject.keywordImmunologyautoimmune diseasesspa
dc.subject.keywordMendelian segregationspa
dc.titleTHU0480 Candidate gene discovery in autoimmunity by using extreme phenotypes and whole exome capturespa
dc.title.TranslatedTitleTHU0480 Descubrimiento de genes candidatos en autoinmunidad mediante fenotipos extremos y captura de exoma completospa
dc.typeconferenceObjecteng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaDocumento de conferenciaspa
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