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Molecular and clinical characterization of two unrelated families with factor V deficiency, including a novel nonsense variant (p.Gln1532*).

Blood cells, molecules & diseases - 1 Jan 2024

Zhang Ke, Ye Longying, Jin Yanhui, Chen Yuan, Jiang Shuting, Xie Haixiao, Yang Lihong, Wang Mingshan

Abstract excerpt

BACKGROUND: Factor V (FV) is an essential cofactor in the coagulation cascade. The characterization of novel mutations is advantageous for the clinical management of FV-deficient patients. METHODS: Coagulation screening and thrombin generation assay were performed with the plate-poor plasma. All 25 exons of the F5 gene were amplified and sequenced. The ClustalX-2.1 software was applied to the multiple sequence...

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PMID: 37639740
DOI: 10.1016/j.bcmd.2023.102794

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