Article
Identification of three FGA mutations in two Chinese families with congenital afibrinogenaemia.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Nov 2006
Fang Y, Dai B-T, Wang X-F, Fu Q-H, Dai J, Xie F, Cai X-H, Wang H-L, Wang Z-Y
Abstract excerpt
Congenital afibrinogenaemia is a rare autosomal recessive disorder, characterized by the complete absence or extremely reduced level of fibrinogen (Fg). We attempted to analyse the phenotype and genotype in two Chinese families with congenital afibrinogenaemia. Coagulation studies including activated partial thromboplastin time (APTT), prothrombin time (PT) and thrombin time (TT) and Fg were performed in the...
Topics
- Afibrinogenemia
- Child
- China
- DNA Mutational Analysis
- Female
- Fibrinogen
- Humans
- Male
- Mutation
- Pedigree
- Phenotype