Article
[Inherited afibrinogenemia caused by compound heterozygous mutations in the beta beta-chain of fibrinogen].
Zhongguo shi yan xue ye xue za zhi - 1 Dec 2005
Fang Yi, Wang Hong-Li, Wang Xue-Feng, Fu Qi-Hua, Wang Wen-Bin, Xie Shuang, Zhou Rong-Fu, Dai Jing, Wang Zhen-Yi
Abstract excerpt
Congenital afibrinogenemia is a rare autosomal recessive disorder, characterized by the complete absence or extremely reduced level of fibrinogen. To analyze the phenotype and genotype of a family with inherited afibrinogenemia, laboratory studies including activated partial thromboplastin time (APTT), prothrombin time (PT) and thrombin time (TT) were tested in the proband and 9 family members. Fibrinogen (Fg) in...
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