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Article

Gene variants in four pedigrees with hereditary coagulation factor XI deficiency and one novel mutation identification.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Mar 2020

Lin Fen, Weng Miao-Shan, Wu Jiao-Ren, Fang Sen-Hai, Yang Li-Ye

Abstract excerpt

: Coagulation factor XI (FXI) deficiency is a bleeding disorder with unpredictable severity. Patients with this condition usually suffer bleeding manifestations after trauma or surgery and are poorly correlated with plasma FXI activity (FXI:C). In the current study, we examined and identified the phenotype and genotype in four unrelated probands and their 32 relatives with hereditary FXI deficiency. The probands...

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PMID: 31815744
DOI: 10.1097/MBC.0000000000000861

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