dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Rabionet, Raquel |
dc.contributor.author | Remesal, Agustín |
dc.contributor.author | Mensa-Vilaró, Anna |
dc.contributor.author | Murías, Sara |
dc.contributor.author | Alcobendas, Rosa |
dc.contributor.author | González-Roca, Eva |
dc.contributor.author | Modesto Caballero, Consuelo |
dc.date.accessioned | 2019-05-22T10:35:22Z |
dc.date.available | 2019-05-22T10:35:22Z |
dc.date.issued | 2019-03-14 |
dc.identifier.citation | Rabionet R, Remesal A, Mensa-Vilaró A, Murías S, Alcobendas R, González-Roca E, et al. Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis. Sci Rep. 2019;9(1):4579. |
dc.identifier.issn | 2045-2322 |
dc.identifier.uri | https://hdl.handle.net/11351/4080 |
dc.description | Artritis idiopàtica juvenil; Mutacions; LACC1/FAMIN |
dc.language.iso | eng |
dc.publisher | Nature Research |
dc.relation.ispartofseries | Scientific Reports;9(1) |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ |
dc.source | Scientia |
dc.subject | Artritis reumatoide en els infants - Aspectes genètics |
dc.subject | Mutació (Biologia) |
dc.subject.mesh | Arthritis, Juvenile |
dc.subject.mesh | Rheumatoid Factor |
dc.subject.mesh | /genetics |
dc.subject.mesh | Mutation |
dc.title | Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1038/s41598-019-40874-2 |
dc.subject.decs | artritis juvenil |
dc.subject.decs | factor reumatoide |
dc.subject.decs | /genética |
dc.subject.decs | mutación |
dc.relation.publishversion | https://www.nature.com/articles/s41598-019-40874-2 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Rabionet R] Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain. Institut de Recerca Sant Joan de Déu (IRSJD), Esplugues, Spain. Departament de Genètica, Microbiologia i Estadística, Institut de Biomedicina de la Universitat de Barcelona (IBUB), Universitat de Barcelona, Barcelona, Spain. [Remesal A, Murías S, Alcobendas R] Department of Pediatric Rheumatology, Hospital La Paz, Madrid, Spain. [Mensa-Vilaró A] Departament de immunologia, Hospital Clínic-IDIBAPS, Barcelona, Spain. Departament de reumatologia pediàtrica, Hospital Sant Joan de Deu, Esplugues, Spain. [González-Roca E] Departament de immunologia, Hospital Clínic-IDIBAPS, Barcelona, Spain. [Modesto C] Secció de Reumatologia, Hospital Universitari Vall d'Hebron, Barcelona, Spain. |
dc.identifier.pmid | 30872671 |
dc.identifier.wos | WOS:000461159600056 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |