Molecular and functional characterization of a natural homozygous Arg67His mutation in the prothrombin gene of a patient with a severe procoagulant defect contrasting with a mild hemorrhagic phenotype.

Akhavan, Sepideh; De Cristofaro, Raimondo; Peyvandi, Flora; Lavoretano, Silvia; Landolfi, Raffaele; Mannucci, Pier M

Akhavan, Sepideh; De Cristofaro, Raimondo; Peyvandi, Flora; Lavoretano, Silvia; Landolfi, Raffaele; Mannucci, Pier M.

Affiliation

Akhavan S; Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Maggiore Hospital University of Milan, Milan, Italy. sepidehakhavan@yahoo.it

Blood ; 100(4): 1347-53, 2002 Aug 15.

Article in En | MEDLINE | ID: mdl-12149217

Subject(s)

Arginine; Blood Coagulation Disorders/genetics; Hemorrhagic Disorders/genetics; Histidine; Mutation; Prothrombin/genetics; Cell Line; Consanguinity; Factor Va/metabolism; Factor Xa/metabolism; Female; Fibrinopeptide A/metabolism; Heparin Cofactor II/pharmacology; Homozygote; Humans; Hydrolysis; Infant; Mutagenesis, Site-Directed; Protein C/metabolism; Prothrombin/metabolism; Receptor, PAR-1; Receptors, Thrombin/metabolism; Thrombin/metabolism; Thrombomodulin/metabolism; Thromboplastin/metabolism; Transfection

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Collection: 01-internacional Database: MEDLINE Main subject: Arginine / Blood Coagulation Disorders / Prothrombin / Hemorrhagic Disorders / Histidine / Mutation Type of study: Prognostic_studies Limits: Female / Humans / Infant Language: En Journal: Blood Year: 2002 Document type: Article Affiliation country: Italy Country of publication: United States

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