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Congenital hypofibrinogenemia associated with a novel heterozygous nonsense mutation in the globular C-terminal domain of the γ-chain (p.Glu275Stop)

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Acknowledgements

This work has a general support by departmental chairs. We would like to thank the support of projects Vega 1/0168/16, Vega 1/0187/17, Grant Comenius University (UK/64/2018), Martin Center of Biomedicine (BioMed Martin, ITMS 26220220187) and Agency for the Support of Research and Development APVV-16-0020, APVV-16-0066.

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Authors and Affiliations

  1. National Centre of Hemostasis and Thrombosis, Department of Hematology and Transfusiology, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital Martin, Martin, Slovakia

    Tomas Simurda, Jana Zolkova, Jan Stasko, Ingrid Skornova & Peter Kubisz

  2. Department of Biomedical and Clinical Sciences “L. Sacco”, Università degli Studi di Milano, Milan, Italy

    Sonia Caccia

  3. Department of Biomedical Sciences, Humanitas University, Pieve Emanuele and Humanitas Clinical and Research Center, IRCCS, Rozzano, Milan, Italy

    Rosanna Asselta

  4. Department of Molecular Biology, Biomedical Center Martin, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin, Martin, Slovakia

    Zuzana Snahnicanova, Dusan Loderer & Zora Lasabova

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  1. Tomas Simurda
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  2. Sonia Caccia
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  3. Rosanna Asselta
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  4. Jana Zolkova
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  5. Jan Stasko
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  6. Ingrid Skornova
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  7. Zuzana Snahnicanova
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  8. Dusan Loderer
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  9. Zora Lasabova
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  10. Peter Kubisz
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Correspondence to Tomas Simurda.

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Simurda, T., Caccia, S., Asselta, R. et al. Congenital hypofibrinogenemia associated with a novel heterozygous nonsense mutation in the globular C-terminal domain of the γ-chain (p.Glu275Stop). J Thromb Thrombolysis 50, 233–236 (2020). https://doi.org/10.1007/s11239-019-01991-x

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  • DOI: https://doi.org/10.1007/s11239-019-01991-x

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