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

CONCLUSION: These three mutations are responsible for the FV-deficient in two pedigrees. Moreover, the nonsense variant p.Gln1532* is first reported in the world.PMID:37639740 | DOI:10.1016/j.bcmd.2023.102794

Source: Blood Cells, Molecules and Diseases - August 28, 2023 Category: Hematology Authors: Ke Zhang Longying Ye Yanhui Jin Yuan Chen Shuting Jiang Haixiao Xie Lihong Yang Mingshan Wang Source Type: research