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

MeSH terms

• Afibrinogenemia* / diagnosis
• Afibrinogenemia* / genetics
• Afibrinogenemia* / physiopathology
• Anticoagulants / administration & dosage
• Blood Coagulation Tests / methods*
• Codon, Nonsense
• Fibrinogen / genetics*
• Genetic Predisposition to Disease
• Genetic Testing / methods
• Humans
• Male
• Middle Aged
• Recurrence
• Thrombelastography / methods*
• Venous Thrombosis* / diagnosis
• Venous Thrombosis* / drug therapy
• Venous Thrombosis* / etiology
• Warfarin / administration & dosage