Article
Molecular characterization of two novel mutations causing factor X deficiency in a Chinese pedigree.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jan 2005
Wang W-B, Fu Q-H, Zhou R-F, Wu W-M, Ding Q-L, Hu Y-Q, Wang X-F, Wang H-L, Wang Z-Y
Abstract excerpt
Factor X (FX) deficiency is a rare bleeding disorder inherited as an autosomal recessive trait. In this study, we investigated the molecular basis of FX deficiency in a Chinese pedigree. The proposita showed a markedly prolonged activated partial thromboplastin time and a mild prolongation of prothrombin time. The levels of FX antigen and FX activity were 58.6% and 2.5%, respectively. Molecular analysis revealed...
Topics
- Adolescent
- Alternative Splicing
- Animals
- Autoantigens
- Cell Line
- China
- Cricetinae
- Factor X
- Factor X Deficiency
- Female
- Genes, Recessive
- Heterozygote
- Humans
- Mutagenesis, Site-Directed