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Fibrinogen Barcelona II: A New Case of Aα 16 Arg → His Substitution

 

作者: M. Borrell,   Ll. Vila,   J. Solá,   I. Coll,   J. Fontcuberta,  

 

期刊: Pathophysiology of Haemostasis and Thrombosis  (Karger Available online 1990)
卷期: Volume 20, issue 1  

页码: 1-7

 

ISSN:1424-8832

 

年代: 1990

 

DOI:10.1159/000216098

 

出版商: S. Karger AG

 

关键词: Dysfibrinogenemia;Fibrinogen;Fibrinopeptide A

 

数据来源: Karger

 

摘要:

We describe a new congenital dysfibrinogenemia: fibrinogen Barcelona II in 8 members of a family with no major bleeding or thrombotic tendency. Incubation of this fibrinogen with thrombin at low concentration releases half of the expected normal fibrinopeptide A (FPA) and with some delay it releases an abnormal FPA. Abnormal FPA was purified and sequenced and showed a change in the normal amino acid sequence: arginine in position 16 has been substituted by a histidine. This is another case of dysfibrinogenemia in which Aα 16 Arg → His has been identified as the cause of abnormal behavior of the fibrinogen molecu

 

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