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

• Published in: Chinese 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
• Language: English
• 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

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...