Article
Factor VIII mutation spectrum in haemophilia A patients in the population of Henan, China.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Oct 2017
Bai Nan, Zhu Xiaofan, Zhao Zhenhua, Bai Ying, Wu Qinghua, Liu Ning, Chen Duo, Kong Xiangdong
Abstract excerpt
: Defects in the coagulation factor VIII gene cause haemophilia A, which is the most common X-linked recessive bleeding disorder. In total, 45 affected families were investigated to elucidate the factor VIII gene mutation spectrum. The families were subjected to clinical, biochemical, and molecular analyses. Inverse-shifting PCR was first applied to severe haemophilia A patients to identify inversions in introns...
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