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

Blood

Volumn 100, Issue 4, 2002, Pages 1347-1353

  Akhavan, Sepideh ^a,b   De Cristofaro, Raimondo ^a,b   Peyvandi, Flora ^a,b   Lavoretano, Silvia ^a,b   Landolfi, Raffaele ^a,b   Mannucci, Pier M ^a,b  

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; DNA; FIBRINOPEPTIDE; HISTIDINE; PROCOAGULANT; PROTEIN C; PROTHROMBIN; THROMBIN; THROMBOMODULIN;

AMINO ACID SUBSTITUTION; ARTICLE; BINDING AFFINITY; BLEEDING TENDENCY; BLOOD CLOTTING DISORDER; CASE REPORT; CHILD; CORRELATION ANALYSIS; DNA DETERMINATION; FEMALE; GENE MUTATION; HUMAN; HYDROLYSIS; MOLECULAR GENETICS; PATHOGENESIS; PRIORITY JOURNAL;

EID: 0037103210     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2002-01-0243     Document Type: Article

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