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Genetic analysis of compound heterozygous pathogenic variants of the F11 gene in two Chinese patients with hereditary factor XI deficiency.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jan 2022

Wang Huanhuan, Jiang Shuting, Xie Haixiao, Yang Lihong, Jin Yanhui, Wang Mingshan

Abstract excerpt

The aim of this study was to explore the molecular pathogenesis of two families with compound heterozygous hereditary factor XI deficiency. All the exons, flanking sequences, 5' and 3' untranslated regions of the F11 gene were analysed by direct DNA sequencing. The suspected variants were confirmed by reverse sequencing. Bioinformatics softwares were used to analysis the conservation and the possible impact of...

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PMID: 34799507
DOI: 10.1097/MBC.0000000000001105

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