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New Prothrombin Mutation (Arg596Trp, Prothrombin Padua 2) Associated With Venous Thromboembolism.

Arteriosclerosis, thrombosis, and vascular biology - 1 May 2016

Bulato Cristiana, Radu Claudia Maria, Campello Elena, Gavasso Sabrina, Spiezia Luca, Tormene Daniela, Simioni Paolo

Abstract excerpt

OBJECTIVE: Two different prothrombin variants, p.Arg596Leu and p.Arg596Gln, conferring antithrombin resistance to patients with venous thromboembolism have been recently reported. Here, we describe a novel substitution affecting Arg596 of prothrombin molecule (Arginine596 to Tryptophan or p.Arg596Trp or Arg221aTrp in the chymotrypsinogen numbering system or prothrombin Padua 2) in 2 Italian families with venous...

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PMID: 27013614
DOI: 10.1161/ATVBAHA.115.306914

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