Congenital hypofibrinogenemia associated with a novel heterozygous nonsense mutation in the globular C-terminal domain of the γ-chain (p.Glu275Stop)
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cardiology and Cardiovascular Medicine,Hematology
Link
http://link.springer.com/content/pdf/10.1007/s11239-019-01991-x.pdf
Reference11 articles.
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2. Simurda T, Zolkova J, Snahnicanova Z et al (2018) Identification of two novel fibrinogen Bβ chain mutations in two slovak families with quantitative fibrinogen disorders. Int J Mol Sci 19:100
3. Korte W, Poon MC, Iorio A et al (2017) Thrombosis in inherited fibrinogen disorders. Transfus Med Hemother 44:70–76
4. Casini A, de Moerloose P, Neerman-Arbez M (2016) Clinical features and management of congenital fibrinogen deficiencies. Semin Thromb Hemost 42:366–374
5. Casini A, Lukowski S, Quintard VL et al (2014) FGB mutations leading to congenital quantitative fibrinogen deficiencies: an update and report of four novel mutations. Thromb Res 133:868–874
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