학술논문
Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing
Document Type
Article
Author
de la Morena-Barrio, Belén; Palomo, Ángeles; Padilla, José; Martín-Fernández, Laura; Rojo-Carrillo, Juan José; Cifuentes, Rosa; Bravo-Pérez, Carlos; Garrido-Rodríguez, Pedro; Miñano, Antonia; Rubio, Ana María; Pagán, Javier; Llamas, María; Vicente, Vicente; Vidal, Francisco; Lozano, María Luisa; Corral, Javier; de la Morena-Barrio, María Eugenia
Source
Journal of Thrombosis and Haemostasis; July 2023, Vol. 21 Issue: 7 p1779-1788, 10p
Subject
Language
ISSN
15387933; 15387836
Abstract
Congenital factor XI (FXI) deficiency is a probably underestimated coagulopathy that confers antithrombotic protection. Characterization of genetic defects in F11is mainly focused on the identification of single-nucleotide variants and small insertion/deletions because they represent up to 99% of the alterations accounting for factor deficiency, with only 3 gross gene defects of structural variants (SVs) having been described.