dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Bernal, Sara |
dc.contributor.author | Pelaez, Irene |
dc.contributor.author | Alias, Laura |
dc.contributor.author | Baena, Manel |
dc.contributor.author | De Pablo-Moreno, Juan A. |
dc.contributor.author | Serrano, Luis J. |
dc.contributor.author | Tizzano Ferrari, Eduardo Fidel |
dc.date.accessioned | 2022-04-25T13:04:01Z |
dc.date.available | 2022-04-25T13:04:01Z |
dc.date.issued | 2021-09 |
dc.identifier.citation | Bernal S, Pelaez I, Alias L, Baena M, Pablo-Moreno JA De, Serrano LJ, et al. High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies. Int J Mol Sci. 2021 Sep;22(18):9705. |
dc.identifier.issn | 1422-0067 |
dc.identifier.uri | https://hdl.handle.net/11351/7396 |
dc.description | Malaltia d'Owren; Anàlisi de mutacions; Parahemofília |
dc.description.sponsorship | This study was supported by the Andalusian Association of Hemophilia (ASANHEMO FV 2016–20 grant) and Octapharma S.A. (OCPH-2019-20 grant). |
dc.language.iso | eng |
dc.publisher | MDPI |
dc.relation.ispartofseries | International Journal of Molecular Sciences;22(18) |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Sang - Coagulació - Trastorns |
dc.subject | Proteïnes recombinants |
dc.subject | Seqüència de nucleòtids |
dc.subject.mesh | Factor V Deficiency |
dc.subject.mesh | /therapy |
dc.subject.mesh | Recombinant Proteins |
dc.subject.mesh | DNA Mutational Analysis |
dc.title | High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.3390/ijms22189705 |
dc.subject.decs | deficiencia del factor V |
dc.subject.decs | /terapia |
dc.subject.decs | proteínas recombinantes |
dc.subject.decs | análisis de mutaciones del ADN |
dc.relation.publishversion | https://doi.org/10.3390/ijms22189705 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Bernal S, Alias L] Department of Genetics, Santa Creu i Sant Pau Hospital and IIB Sant Pau, 08041 Barcelona, Spain. CIBERER. U-705, 18014 Barcelona, Spain. [Pelaez I] Department of Pediatric and Oncohematology, University Hospital Virgen de las Nieves, 18014 Granada, Spain. [Baena M] Department of Genetics, Santa Creu i Sant Pau Hospital and IIB Sant Pau, 08041 Barcelona, Spain. [De Pablo-Moreno JA, Serrano LJ] Department of Genetic, Physiology and Microbiology, School of Biology, Complutense University, 28040 Madrid, Spain. [Tizzano EF] Servei de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca en Genètica de la Medicina, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain |
dc.identifier.pmid | 34575869 |
dc.identifier.wos | 000699476300001 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |