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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