Article
Identification of two novel mutations in three children with congenital factor VII deficiency.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jul 2021
Liang Kairong, Nikuze Lauriane, Zhang Fuyong, Lu Zhengjing, Wei Manlv, Wei Hongying
Abstract excerpt
Congenital factor VII deficiency (FVIID) is a rare F7 gene mutation causing bleeding disorder inherited in an autosomal recessive manner. In this study, we aimed to identify genetic defects and analyze their relationships with phenotype in three Chinese FVIID patients. The diagnosis of FVIID was made based on FVII coagulant activity (FVII:C) levels assessed through prothrombin time assay. Direct sequencing and...
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