A novel mutation in a patient with congenital coagulation factor Ⅻ deficiency

Human coagulation factor Ⅻ （FⅫ）, also called Hageman factor, is a plasma plycoprotein that is functionally deficient in individuals with Hageman trait; which is an inherited trait discovered by chance during preoperative blood coagulation screening tests. FⅫ is a single-chain 596-amino-acid zymogen...

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Bibliographic Details
Published in:Chinese medical journal 2008-07, Vol.121 (13), p.1241-1244
Main Authors: Feng, Ying, Ye, Xu, Pang, Ying, Dai, Jing, Wang, Xue-feng, Zhou, Xu-hong
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Blood Coagulation
Factor XII - genetics
Factor XII Deficiency - blood
Factor XII Deficiency - genetics
Female
Humans
Male
Point Mutation
凝结因素
基因突变
血栓形成
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Summary:Human coagulation factor Ⅻ （FⅫ）, also called Hageman factor, is a plasma plycoprotein that is functionally deficient in individuals with Hageman trait; which is an inherited trait discovered by chance during preoperative blood coagulation screening tests. FⅫ is a single-chain 596-amino-acid zymogen of a serine protease with an approximate molecular weight of 80 000 FⅫ appears to play an important role in blood coagulation,
ISSN:0366-6999
2542-5641
DOI:10.1097/00029330-200807010-00018