SAT0015 Novel and rare mutations linked to polyautoimmunity
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). Whol...
- Autores:
- Tipo de recurso:
- Fecha de publicación:
- 2016
- Institución:
- Universidad del Rosario
- Repositorio:
- Repositorio EdocUR - U. Rosario
- Idioma:
- eng
- OAI Identifier:
- oai:repository.urosario.edu.co:10336/26495
- Acceso en línea:
- https://doi.org/10.1136/annrheumdis-2016-eular.2163
https://repository.urosario.edu.co/handle/10336/26495
- Palabra clave:
- Polyautoimmunity
autoimmune diseases
extreme phenotypes
- Rights
- License
- http://purl.org/coar/access_right/c_14cb
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SAT0015 Novel and rare mutations linked to polyautoimmunitySAT0015 Mutaciones nuevas y raras relacionadas con la poliautoinmunidadPolyautoimmunityautoimmune diseasesextreme phenotypesBackground 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 variantsBMJ Publishing Group2016-062020-08-06T16:24:09Zinfo:eu-repo/semantics/conferenceObjecthttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_c94fapplication/pdfhttps://doi.org/10.1136/annrheumdis-2016-eular.2163ISSN: 0959-8138EISSN: 1756-1833https://repository.urosario.edu.co/handle/10336/26495Annals of the Rheumatic Diseasesinstname:Universidad del Rosarioreponame:Repositorio Institucional EdocURenghttps://ard.bmj.com/content/75/Suppl_2/669.1http://purl.org/coar/access_right/c_14cbJohar, A.Sarmiento-Monroy, J.C.Rojas-Villarraga, A.Silva-Lara, M.F.Patel, H.R.Mantilla, R.D.Mastronardi, C.Arcos-Burgos, M.Anaya, Juan-Manueloai:repository.urosario.edu.co:10336/264952021-08-10T22:17:37Z |
| dc.title.none.fl_str_mv |
SAT0015 Novel and rare mutations linked to polyautoimmunity SAT0015 Mutaciones nuevas y raras relacionadas con la poliautoinmunidad |
| title |
SAT0015 Novel and rare mutations linked to polyautoimmunity |
| spellingShingle |
SAT0015 Novel and rare mutations linked to polyautoimmunity Polyautoimmunity autoimmune diseases extreme phenotypes |
| title_short |
SAT0015 Novel and rare mutations linked to polyautoimmunity |
| title_full |
SAT0015 Novel and rare mutations linked to polyautoimmunity |
| title_fullStr |
SAT0015 Novel and rare mutations linked to polyautoimmunity |
| title_full_unstemmed |
SAT0015 Novel and rare mutations linked to polyautoimmunity |
| title_sort |
SAT0015 Novel and rare mutations linked to polyautoimmunity |
| dc.subject.none.fl_str_mv |
Polyautoimmunity autoimmune diseases extreme phenotypes |
| topic |
Polyautoimmunity autoimmune diseases extreme phenotypes |
| description |
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 |
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2016 |
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2016-06 2020-08-06T16:24:09Z |
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info:eu-repo/semantics/conferenceObject |
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http://purl.org/coar/version/c_970fb48d4fbd8a85 |
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http://purl.org/coar/resource_type/c_c94f |
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https://doi.org/10.1136/annrheumdis-2016-eular.2163 ISSN: 0959-8138 EISSN: 1756-1833 https://repository.urosario.edu.co/handle/10336/26495 |
| url |
https://doi.org/10.1136/annrheumdis-2016-eular.2163 https://repository.urosario.edu.co/handle/10336/26495 |
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ISSN: 0959-8138 EISSN: 1756-1833 |
| dc.language.none.fl_str_mv |
eng |
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eng |
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https://ard.bmj.com/content/75/Suppl_2/669.1 |
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application/pdf |
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BMJ Publishing Group |
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BMJ Publishing Group |
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Annals of the Rheumatic Diseases instname:Universidad del Rosario reponame:Repositorio Institucional EdocUR |
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Universidad del Rosario |
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