Prothrombin deficiency is a very rare disorder caused by mutations in the F2 gene that generate hypoprothrombinemia or dysprothrombinemia and is characterized by bleeding manifestations that can vary from clinically irrelevant to life-threatening.

A novel congenital dysprothrombinemia leading to defective prothrombin maturation

Sessa, Francesco;
2014-01-01

Abstract

Prothrombin deficiency is a very rare disorder caused by mutations in the F2 gene that generate hypoprothrombinemia or dysprothrombinemia and is characterized by bleeding manifestations that can vary from clinically irrelevant to life-threatening.
2014
Dysprothrombinemia
Factor II
Meizothrombin
Molecular modeling
Prothrombin activation
Blood Coagulation
Blood Coagulation Disorders
Inherited
Enzyme Precursors
Female
Homozygote
Humans
Male
Middle Aged
Molecular Dynamics Simulation
Pedigree
Prothrombin
Thrombin
Thromboplastin
Mutation
Missense
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.12607/65020
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