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

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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Bibliographic Details
Main Authors: Pierre-Emmanuel Morange, Franck Peiretti, Lenaick Gourhant, Carole Proust, Omar Soukarieh, Anne-Sophie Pulcrano-Nicolas, Ganapathi-Varma Saripella, Luca Stefanucci, Romaric Lacroix, Manal Ibrahim-Kosta, Catherine A Lemarié, Mattia Frontini, Marie-Christine Alessi, David-Alexandre Trégouët, Francis Couturaud
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2021-01-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1009284

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https://doi.org/10.1371/journal.pgen.1009284

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