Article
A novel missense mutation in F9 gene causes hemophilia B in a family with clinical variability.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Mar 2020
Yi Sheng, Yang Qi, Zuo Yangjin, Li Mengting, Luo Jingsi, Qin Zailong, Zhang Qinle, Li Meng, Huang Limei, Lu Yingchi, Feng Shihan, Fan Xin
Abstract excerpt
: Hemophilia B is an X-linked recessive bleeding disorder caused by diverse mutations throughout the F9 gene. The same F9 mutation may result in different degrees of clotting factor deficiency. The aim of this study was to investigate the pathogenesis of two hemophilia B patients with different severity in a family. A family with two hemophilia B patients was recruited in this study. Coagulation assays,...
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