Exome Sequencing and Clot Lysis Experiments Demonstrate the R458C Mutation of the Alpha Chain of Fibrinogen to be Associated with Impaired Fibrinolysis in a Family with Thrombophilia

Autor: Caty Carrerra, Adoración Quiroga, Jasone Monasterio, Israel Fernandez-Cadenas, Anna Penalba, Eduardo Anglés-Cano, Cristina Boada, Santiago Rodriguez Bueno, Pilar Delgado, Joan Montaner

Publikováno v: ResearcherID
Journal of Atherosclerosis and Thrombosis
Journal of Atherosclerosis and Thrombosis, Japan Atherosclerosis Society, 2016, ⟨10.5551/jat.30676⟩
Journal of Atherosclerosis and Thrombosis, Japan Atherosclerosis Society, 2016, 〈10.5551/jat.30676〉

International audience; Aim: We report the study of a familial rare disease with recurrent venous thromboembolic events that remained undiagnosed for many years using standard coagulation and hemostasis techniques. Methods: Exome sequencing was perfo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::192713409e67ba4f9048c40b58eef888
https://doi.org/10.5551/jat.30676