dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Boluda-Navarro, Mireia |
dc.contributor.author | Ibáñez, Mariam |
dc.contributor.author | Liquori, Alessandro |
dc.contributor.author | Franco Jarava, Clara |
dc.contributor.author | Rodríguez-Vega, Héctor |
dc.contributor.author | Colobran Oriol, Roger |
dc.contributor.author | Martínez Gallo, Mónica |
dc.date.accessioned | 2021-07-15T11:55:04Z |
dc.date.available | 2021-07-15T11:55:04Z |
dc.date.issued | 2021-03-31 |
dc.identifier.citation | Boluda-Navarro M, Ibáñez M, Liquori A, Franco-Jarava C, Martínez-Gallo M, Rodríguez-Vega H, et al. Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome. Front Immunol. 2021 Mar 31;12:625591. |
dc.identifier.issn | 1664-3224 |
dc.identifier.uri | https://hdl.handle.net/11351/6167 |
dc.description | Síndrome de Chédiak-Higashi; LYST; Disomia uniparental |
dc.description.sponsorship | This study was supported by research funding from FEDER funds (CIBERONC, CB16/12/00284), Instituto de Salud Carlos III grants PI16/01113, PI17/00660, PI18/1472, PI19/00812 cofinanced by the European Regional Development Fund (ERDF); as well as from the “Conselleria de Educación, Cultura y Deporte” GV/2019/084. MB-N and AL are recipients of a fellowship from the “Asociación Española Contra El Cáncer” and the “Fundación Española de Hematología y Hemoterapia”, respectively. |
dc.language.iso | eng |
dc.publisher | Frontiers Media |
dc.relation.ispartofseries | Frontiers in Immunology;12 |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Anomalies cromosòmiques |
dc.subject | Malalties immunològiques |
dc.subject.mesh | Uniparental Disomy |
dc.subject.mesh | Chediak-Higashi Syndrome |
dc.subject.mesh | Genes, Recessive |
dc.title | Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.3389/fimmu.2021.625591 |
dc.subject.decs | disomía uniparental |
dc.subject.decs | síndrome de Chediak-Higashi |
dc.subject.decs | genes recesivos |
dc.subject.decs | disomia uniparental |
dc.relation.publishversion | https://www.frontiersin.org/articles/10.3389/fimmu.2021.625591/full |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Boluda-Navarro M, Liquori A] Accredited Research Group in Hematology and Hemotherapy, Instituto de Investigación Sanitaria La Fe, Valencia, Spain. [Ibáñez M] Accredited Research Group in Hematology and Hemotherapy, Instituto de Investigación Sanitaria La Fe, Valencia, Spain. Department of Hematology, Hospital Universitario y Politécnico La Fe, Barcelona, Spain. Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain. Department of Medicine, University of Valencia, Valencia, Spain. Departamento de Ciencias Biomédicas, Facultad de Ciencias de la Salud, Universidad CEU Cardenal Herrera, Valencia, Spain. [Franco-Jarava C, Martínez-Gallo M] Servei d’Immunologia, Vall d'Hebron Hospital Universitari (HUVH), Barcelona, Spain. Grup d’Immunologia Diagnòstica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia, Universitat Autònoma de Barcelona, Bellaterra, Spain. [Rodríguez-Vega H] Pediatric Hematology Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain. [Colobran R] Servei d’Immunologia, Vall d'Hebron Hospital Universitari (HUVH), Barcelona, Spain. Grup d’Immunologia Diagnòstica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia, Universitat Autònoma de Barcelona, Bellaterra, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain |
dc.identifier.pmid | 33868243 |
dc.identifier.wos | 000639833700001 |
dc.relation.projectid | info:eu-repo/grantAgreement/ES/PE2013-2016/CB16%2F12%2F00284 |
dc.relation.projectid | info:eu-repo/grantAgreement/ES/PE2013-2016/PI16%2F01113 |
dc.relation.projectid | info:eu-repo/grantAgreement/ES/PE2013-2016/PI17%2F00660 |
dc.relation.projectid | info:eu-repo/grantAgreement/ES/PE2013-2016/PI18%2F01472 |
dc.relation.projectid | info:eu-repo/grantAgreement/ES/PE2017-2020/PI19%2F00812 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |