dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Rizzuto, Valeria |
dc.contributor.author | Koopmann, Tamara T. |
dc.contributor.author | Blanco Alvarez, Adoración |
dc.contributor.author | Tazón Vega, Bárbara |
dc.contributor.author | Idrizovic, Amira |
dc.contributor.author | Díaz de Heredia Rubio, Maria Cristina |
dc.contributor.author | Mañu Pereira, M Mar |
dc.contributor.author | Beneitez Pastor, David |
dc.contributor.author | Velasco Puyó, Pablo |
dc.date.accessioned | 2021-07-06T12:29:33Z |
dc.date.available | 2021-07-06T12:29:33Z |
dc.date.issued | 2021-02-05 |
dc.identifier.citation | Rizzuto V, Koopmann TT, Blanco-Álvarez A, Tazón-Vega B, Idrizovic A, Díaz de Heredia C, et al. Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases. Front Physiol. 2021 Feb 5;12:628236. |
dc.identifier.issn | 1664-042X |
dc.identifier.uri | https://hdl.handle.net/11351/6126 |
dc.description | Seqüenciació de nova generació; Trastorns d’anèmia rars; Hemoglobinopaties inestables |
dc.description.sponsorship | This study was supported by funding from the authors’ institutions and the European Commission H2020-MSCA-ITN-2019, Grant Agreement N860436, “EVIDENCE.” |
dc.language.iso | eng |
dc.publisher | Frontiers Media |
dc.relation.ispartofseries | Frontiers in Physiology;12 |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Talassèmia |
dc.subject | Hemoglobinopatia |
dc.subject | Seqüències d'inserció de l'ADN |
dc.subject.mesh | beta-Thalassemia |
dc.subject.mesh | Hemoglobinopathies |
dc.subject.mesh | Sequence Analysis, DNA |
dc.title | Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.3389/fphys.2021.628236 |
dc.subject.decs | talasemia beta |
dc.subject.decs | hemoglobinopatías |
dc.subject.decs | análisis de secuencias de ADN |
dc.relation.publishversion | https://doi.org/10.3389/fphys.2021.628236 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Rizzuto V] Recerca translacional en càncer en la infància i l’adolescència– Rare Anemia Disorders Research Laboratory, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. ERN-EuroBloodNet Member, Barcelona, Spain. Josep Carreras Leukaemia Research Institute, Badalona, Spain. Department of Medicine, Universitat de Barcelona, Barcelona, Spain. [Koopmann TT] Department of Clinical Genetics, Leiden University Medical Center, ERN-EuroBloodNet Member, Leiden, Netherlands. [Blanco-Álvarez A, Tazón-Vega B] Hematologic Molecular Genetics Unit, Hematology Department, Hospital Universitari Vall d’Hebron, ERN-EuroBloodNet Member, Barcelona, Spain. [Idrizovic A, Mañú-Pereira MDM] Recerca translacional en càncer en la infància i l’adolescència– Rare Anemia Disorders Research Laboratory, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. ERN-EuroBloodNet Member, Barcelona, Spain. [Díaz de Heredia C, Velasco P] Servei d’Oncologia i Hematologia Pediàtriques, Vall d’Hebron Hospital Universitari, Barcelona, Spain. ERN-EuroBloodNet Member, Barcelona, Spain. [Beneitez D] Unitat de Trastorns dels glòbuls vermells, Servei d’Hematologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. ERN-EuroBloodNet Member, Barcelona, Spain |
dc.identifier.pmid | 33613322 |
dc.identifier.wos | 000619475500001 |
dc.relation.projectid | info:eu-repo/grantAgreement/EC/H2020/860436 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |