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

• Pierre-Emmanuel Morange ,

  Contributed equally to this work with: Pierre-Emmanuel Morange, Franck Peiretti

  Roles Conceptualization, Investigation, Supervision, Writing – review & editing

  * E-mail: pierre.morange@ap-hm.fr

  Affiliations Aix Marseille Univ, INSERM, INRAE, C2VN, Marseille, France, Hematology laboratory, CHU Timone, Marseille, France

  https://orcid.org/0000-0002-9065-722X

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• Franck Peiretti ,

  Contributed equally to this work with: Pierre-Emmanuel Morange, Franck Peiretti

  Roles Conceptualization, Formal analysis, Supervision, Writing – original draft

  Affiliation Aix Marseille Univ, INSERM, INRAE, C2VN, Marseille, France

  https://orcid.org/0000-0001-7198-0534

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• Lenaick Gourhant,

  Roles Formal analysis, Investigation

  Affiliations EA3878-GETBO, Univ Brest, Department of internal medicine and chest diseases, FCRIN_INNOVTE, CHU Brest, Brest, France, INSERM U1078, Brest, France

  https://orcid.org/0000-0002-5761-8480

  ⨯
• Carole Proust,

  Roles Formal analysis, Investigation

  Current address: INSERM UMR 1219, Bordeaux Population Health Research Center, University of Bordeaux, France

  Affiliation Sorbonne Université, UPMC, INSERM UMR_S 1166, Paris, France

  ⨯
• Omar Soukarieh,

  Roles Formal analysis, Methodology, Writing – review & editing

  Affiliation INSERM UMR 1219, Bordeaux Population Health Research Center, University of Bordeaux, France

  https://orcid.org/0000-0003-4923-4353

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• Anne-Sophie Pulcrano-Nicolas,

  Roles Formal analysis, Investigation

  Affiliation Sorbonne Université, UPMC, INSERM UMR_S 1166, Paris, France

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• Ganapathi-Varma Saripella,

  Roles Formal analysis, Investigation

  Current address: SLU Bioinformatics Infrastructure (SLUBI), PlantLink, Department of Plant Breeding, Swedish University of Agricultural Sciences, Alnarp, Sweden (current affiliation)

  Affiliation Sorbonne Université, UPMC, INSERM UMR_S 1166, Paris, France

  https://orcid.org/0000-0003-3504-9333

  ⨯
• Luca Stefanucci,

  Roles Formal analysis, Investigation

  Affiliations National Institute for Health Research BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom, NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom, British Heart Foundation Centre of Excellence, Cambridge Biomedical Campus, United Kingdom

  https://orcid.org/0000-0002-4352-1151

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• Romaric Lacroix,

  Roles Formal analysis, Investigation

  Affiliation Aix Marseille Univ, INSERM, INRAE, C2VN, Marseille, France

  ⨯
• Manal Ibrahim-Kosta,

  Roles Formal analysis, Investigation

  Affiliations Aix Marseille Univ, INSERM, INRAE, C2VN, Marseille, France, Hematology laboratory, CHU Timone, Marseille, France

  ⨯
• Catherine A. Lemarié,

  Roles Formal analysis, Investigation

  Affiliations EA3878-GETBO, Univ Brest, Department of internal medicine and chest diseases, FCRIN_INNOVTE, CHU Brest, Brest, France, INSERM U1078, Brest, France

  https://orcid.org/0000-0002-3897-4287

  ⨯
• Mattia Frontini,

  Roles Data curation, Supervision

  Affiliations National Institute for Health Research BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom, NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom, British Heart Foundation Centre of Excellence, Cambridge Biomedical Campus, United Kingdom

  https://orcid.org/0000-0001-8074-6299

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• Marie-Christine Alessi,

  Roles Formal analysis, Investigation, Writing – original draft

  Affiliations Aix Marseille Univ, INSERM, INRAE, C2VN, Marseille, France, Hematology laboratory, CHU Timone, Marseille, France

  https://orcid.org/0000-0003-3927-5792

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• David-Alexandre Trégouët ,

  Roles Conceptualization, Formal analysis, Methodology, Supervision, Writing – review & editing

  Current address: INSERM UMR 1219, Bordeaux Population Health Research Center, University of Bordeaux, France

  ¶‡ D-AT and FC also contributed equally to this work.

  Affiliation Sorbonne Université, UPMC, INSERM UMR_S 1166, Paris, France

  https://orcid.org/0000-0001-9084-7800

  ⨯
• Francis Couturaud

  Roles Formal analysis, Funding acquisition, Investigation, Supervision, Writing – original draft

  ¶‡ D-AT and FC also contributed equally to this work.

  Affiliations EA3878-GETBO, Univ Brest, Department of internal medicine and chest diseases, FCRIN_INNOVTE, CHU Brest, Brest, France, INSERM U1078, Brest, France

  https://orcid.org/0000-0002-1855-8032

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