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 inChinese medical journal Vol. 121; no. 13; pp. 1241 - 1244
Main Authors FENG, Ying, YE, Xu, PANG, Ying, DAI, Jing, WANG, Xue-feng, ZHOU, Xu-hong
Format Journal Article
LanguageEnglish
Published China Department of Internal Medicine.Second Affiliated Hospital of Guangzhou Medical College,Guangzhou 510260,China%Department of Transfusion Medicine,Ruijin Hospital,Shanghai Jiaotong University,Shahghai 210025,China 05.07.2008
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
mutation
factor Ⅻ deficiency/inherited
thrombosis
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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,
Bibliography:factor Ⅻ deficiency
mutation
factor Ⅻ deficiency;inherited; mutation; thrombosis
thrombosis
inherited
11-2154/R
R552
ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0366-6999
2542-5641
DOI:10.1097/00029330-200807010-00018