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| A novel mutation in a patient with congenital coagulation factor XII deficiency | |
| 基金项目： | Scientific and Technological Planning Project of Guangdong Province,No. 2005B30601008; |
| 摘 要： | 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, |
| 关 键 词： | 血栓形成 基因突变 患者 凝结因素 |
A novel mutation in a patient with congenital coagulation factor XII deficiency |
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| FENG Ying,YE Xu,PANG Ying,DAI Jing,WANG Xue-feng,ZHOU Xu-hong. A novel mutation in a patient with congenital coagulation factor XII deficiency[J]. Chinese medical journal, 2008, 121(13): 1241-1244 | |
| Authors: | FENG Ying YE Xu PANG Ying DAI Jing WANG Xue-feng ZHOU Xu-hong |
| Affiliation: | Department of Internal Medicine, Second Affiliated Hospital of Guangzhou Medical College, Guangzhou 510260, China;Department of Internal Medicine, Second Affiliated Hospital of Guangzhou Medical College, Guangzhou 510260, China;Department of Internal Medicine, Second Affiliated Hospital of Guangzhou Medical College, Guangzhou 510260, China;Department of Transfusion Medicine, Ruijin Hospital, Shanghai Jiaotong University, Shanghai 210025, China;Department of Transfusion Medicine, Ruijin Hospital, Shanghai Jiaotong University, Shanghai 210025, China;Department of Internal Medicine, Second Affiliated Hospital of Guangzhou Medical College, Guangzhou 510260, China |
| Abstract: | factor Ⅻ deficiency inherited mutation thrombosis |
| Keywords: | factor XII deficiency/inherited mutation thrombosis |
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