A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant

Rare variants outside the classical coagulation cascade might cause inherited thrombosis. We aimed to identify the variant(s) causing venous thromboembolism (VTE) in a family with multiple relatives affected with unprovoked VTE and no thrombophilia defects. We identified by whole exome sequencing an...

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Detalles Bibliográficos
Autores principales: Morange, Pierre-Emmanuel, Peiretti, Franck, Gourhant, Lenaick, Proust, Carole, Soukarieh, Omar, Pulcrano-Nicolas, Anne-Sophie, Saripella, Ganapathi-Varma, Stefanucci, Luca, Lacroix, Romaric, Ibrahim-Kosta, Manal, Lemarié, Catherine A., Frontini, Mattia, Alessi, Marie-Christine, Trégouët, David-Alexandre, Couturaud, Francis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7846112/
https://www.ncbi.nlm.nih.gov/pubmed/33465109
http://dx.doi.org/10.1371/journal.pgen.1009284

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