Ítem
Solo Metadatos
SAT0015 Novel and rare mutations linked to polyautoimmunity
| dc.creator | Johar, A. | spa |
| dc.creator | Sarmiento-Monroy, J.C. | spa |
| dc.creator | Rojas-Villarraga, A. | spa |
| dc.creator | Silva-Lara, M.F. | spa |
| dc.creator | Patel, H.R. | spa |
| dc.creator | Mantilla, R.D. | spa |
| dc.creator | Mastronardi, C. | spa |
| dc.creator | Arcos-Burgos, M. | spa |
| dc.creator | Anaya, Juan-Manuel | spa |
| dc.date.accessioned | 2020-08-06T16:24:09Z | |
| dc.date.available | 2020-08-06T16:24:09Z | |
| dc.date.created | 2016-06 | spa |
| dc.description.abstract | Background Polyautoimmunity (i.e., the presence of two or more autoimmune diseases in a single patient) and familial autoimmunity (i.e., diverse autoimmune diseases in a nuclear family) represent extreme phenotypes ideal for identifying major genomic variants contributing to autoimmunity (1–3). Whole Exome Sequencing (WES) and linkage analysis are well suited for this purpose due to its strong resolution upon familial segregation patterns of functional protein coding and splice variants | eng |
| dc.format.mimetype | application/pdf | |
| dc.identifier.doi | https://doi.org/10.1136/annrheumdis-2016-eular.2163 | |
| dc.identifier.issn | ISSN: 0959-8138 | |
| dc.identifier.issn | EISSN: 1756-1833 | |
| dc.identifier.uri | https://repository.urosario.edu.co/handle/10336/26495 | |
| dc.language.iso | eng | spa |
| dc.publisher | BMJ Publishing Group | spa |
| dc.relation.citationIssue | No. Suppl 2 | |
| dc.relation.citationStartPage | 669 | |
| dc.relation.citationTitle | Annals of the Rheumatic Diseases | |
| dc.relation.citationVolume | Vol. 75 | |
| dc.relation.ispartof | Annals of the Rheumatic Diseases, ISSN:0959-8138 ; EISSN:1756-1833, Vol.75, No.Suppl 2 (2016-06); pp.669 | spa |
| dc.relation.uri | https://ard.bmj.com/content/75/Suppl_2/669.1 | spa |
| dc.rights.accesRights | info:eu-repo/semantics/closedAccess | |
| dc.rights.acceso | Bloqueado (Texto referencial) | spa |
| dc.source | Annals of the Rheumatic Diseases | spa |
| dc.source.instname | instname:Universidad del Rosario | |
| dc.source.reponame | reponame:Repositorio Institucional EdocUR | |
| dc.subject.keyword | Polyautoimmunity | spa |
| dc.subject.keyword | autoimmune diseases | spa |
| dc.subject.keyword | extreme phenotypes | spa |
| dc.title | SAT0015 Novel and rare mutations linked to polyautoimmunity | spa |
| dc.title.TranslatedTitle | SAT0015 Mutaciones nuevas y raras relacionadas con la poliautoinmunidad | spa |
| dc.type | conferenceObject | eng |
| dc.type.hasVersion | info:eu-repo/semantics/publishedVersion | |
| dc.type.spa | Documento de conferencia | spa |
