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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Veröffentlicht in:	Journal of thrombosis and thrombolysis 2020-07, Vol.50 (1), p.233-236
Hauptverfasser:	Simurda, Tomas, Caccia, Sonia, Asselta, Rosanna, Zolkova, Jana, Stasko, Jan, Skornova, Ingrid, Snahnicanova, Zuzana, Loderer, Dusan, Lasabova, Zora, Kubisz, Peter
Format:	Artikel
Sprache:	eng
Schlagworte:	Afibrinogenemia - diagnosis Afibrinogenemia - genetics Afibrinogenemia - physiopathology Anticoagulants - administration & dosage Blood Coagulation Tests - methods Cardiac & Cardiovascular Systems Cardiology Cardiovascular System & Cardiology Codon, Nonsense Fibrinogen - genetics Genetic Predisposition to Disease Genetic Testing - methods Hematology Humans Letter to the Editor Life Sciences & Biomedicine Male Medicine Medicine & Public Health Middle Aged Nonsense mutation Peripheral Vascular Disease Recurrence Science & Technology Thrombelastography - methods Venous Thrombosis - diagnosis Venous Thrombosis - drug therapy Venous Thrombosis - etiology Warfarin - administration & dosage
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