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A novel homozygous mutation (Gly1715Ser) causing hereditary factor V deficiency in a Chinese patient.

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

Liu Siqi, Luo Shasha, Yang Lihong, Jin Yanhui, Xie Haixiao, Xie Yaosheng, Li Xiaolong, Wang Mingshan

Abstract excerpt

: To explore the phenotype and genotype of a Chinese family with hereditary factor V deficiency. Routine blood coagulation indexes were detected by one-stage clotting method, whereas factor V antigen was detected by ELISA. All exons and intron-exon boundaries of F5 gene were amplified by PCR and sequenced directly. The suspected mutation was confirmed by reverse sequencing. Bioinformatics softwares were used to...

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PMID: 31789663
DOI: 10.1097/MBC.0000000000000871

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