Article
Molecular characterisation of Tyr530Ser and IVS16-1G>T mutations causing severe factor V deficiency.
Thrombosis and haemostasis - 1 Sept 2010
Zheng Weidong, Liu Yanhui, Luo Ying, Chen Zhihong, Wang Yan, Zhang Liyan, Gao Guoquan, Yao Zhibin
Abstract excerpt
Our previous study reported a missense mutation (Tyr530Ser) and a splicing site mutation (IVS16-1G>T) in blood coagulation factor V (FV) gene in a two-year-old Chinese boy. However, the linkage between the mutations and severe FV deficiency and the underlying mechanism has not been elucidated. The present study was designed to investigate the effect of the two mutations and the possible pathogenetic mechanism. FV...
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