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

Background 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 of...

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Tipo de recurso:
Fecha de publicación:
2014
Institución:
Universidad del Rosario
Repositorio:
Repositorio EdocUR - U. Rosario
Idioma:
eng
OAI Identifier:
oai:repository.urosario.edu.co:10336/26447
Acceso en línea:
https://doi.org/10.1136/annrheumdis-2014-eular.4809
https://repository.urosario.edu.co/handle/10336/26447
Palabra clave:
autoimmune syndrome
Immunologyautoimmune diseases
Mendelian segregation
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http://purl.org/coar/access_right/c_14cb
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network_acronym_str EDOCUR2
network_name_str Repositorio EdocUR - U. Rosario
repository_id_str
spelling THU0480 Candidate gene discovery in autoimmunity by using extreme phenotypes and whole exome captureTHU0480 Descubrimiento de genes candidatos en autoinmunidad mediante fenotipos extremos y captura de exoma completoautoimmune syndromeImmunologyautoimmune diseasesMendelian segregationBackground 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.BMJ Publishing Group2014-062020-08-06T16:24:04Zinfo:eu-repo/semantics/conferenceObjecthttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_c94fapplication/pdfhttps://doi.org/10.1136/annrheumdis-2014-eular.4809ISSN: 0959-8138EISSN: 1756-1833https://repository.urosario.edu.co/handle/10336/26447Annals of the Rheumatic Diseasesinstname:Universidad del Rosarioreponame:Repositorio Institucional EdocURenghttps://ard.bmj.com/content/73/Suppl_2/349.2http://purl.org/coar/access_right/c_14cbArcos-Burgos, M.Johar, A.Amaya-Amaya, J.Mantilla, R.D.Andrews, D.Rojas-Villarraga, A.Anaya, Juan-Manueloai:repository.urosario.edu.co:10336/264472021-08-10T22:00:33Z
dc.title.none.fl_str_mv THU0480 Candidate gene discovery in autoimmunity by using extreme phenotypes and whole exome capture
THU0480 Descubrimiento de genes candidatos en autoinmunidad mediante fenotipos extremos y captura de exoma completo
title THU0480 Candidate gene discovery in autoimmunity by using extreme phenotypes and whole exome capture
spellingShingle THU0480 Candidate gene discovery in autoimmunity by using extreme phenotypes and whole exome capture
autoimmune syndrome
Immunologyautoimmune diseases
Mendelian segregation
title_short THU0480 Candidate gene discovery in autoimmunity by using extreme phenotypes and whole exome capture
title_full THU0480 Candidate gene discovery in autoimmunity by using extreme phenotypes and whole exome capture
title_fullStr THU0480 Candidate gene discovery in autoimmunity by using extreme phenotypes and whole exome capture
title_full_unstemmed THU0480 Candidate gene discovery in autoimmunity by using extreme phenotypes and whole exome capture
title_sort THU0480 Candidate gene discovery in autoimmunity by using extreme phenotypes and whole exome capture
dc.subject.none.fl_str_mv autoimmune syndrome
Immunologyautoimmune diseases
Mendelian segregation
topic autoimmune syndrome
Immunologyautoimmune diseases
Mendelian segregation
description Background 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.
publishDate 2014
dc.date.none.fl_str_mv 2014-06
2020-08-06T16:24:04Z
dc.type.none.fl_str_mv info:eu-repo/semantics/conferenceObject
dc.type.coarversion.fl_str_mv http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.coar.fl_str_mv http://purl.org/coar/resource_type/c_c94f
dc.identifier.none.fl_str_mv https://doi.org/10.1136/annrheumdis-2014-eular.4809
ISSN: 0959-8138
EISSN: 1756-1833
https://repository.urosario.edu.co/handle/10336/26447
url https://doi.org/10.1136/annrheumdis-2014-eular.4809
https://repository.urosario.edu.co/handle/10336/26447
identifier_str_mv ISSN: 0959-8138
EISSN: 1756-1833
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv https://ard.bmj.com/content/73/Suppl_2/349.2
dc.rights.coar.fl_str_mv http://purl.org/coar/access_right/c_14cb
rights_invalid_str_mv http://purl.org/coar/access_right/c_14cb
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv BMJ Publishing Group
publisher.none.fl_str_mv BMJ Publishing Group
dc.source.none.fl_str_mv Annals of the Rheumatic Diseases
instname:Universidad del Rosario
reponame:Repositorio Institucional EdocUR
instname_str Universidad del Rosario
institution Universidad del Rosario
reponame_str Repositorio Institucional EdocUR
collection Repositorio Institucional EdocUR
repository.name.fl_str_mv
repository.mail.fl_str_mv
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