Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency


The p.Asn460Thrfs*20 and p.Arg229* variants of SERPINC1 were responsible for the two hereditary AT deficiency pedigrees, which led to AT deficiency by different mechanisms. The p.Asn460Thrfs*20 variant is reported for the first time. © 2023. The Author(s).

Authors Wang HL, Ruan DD, Wu M, Ji YY, Hu XX, Wu QY, Zhang YP, Lin B, Hu YN, Wang H, Tang Y, Fang ZT, Luo JW, Liao LS, Gao MZ
Journal Thrombosis journal
Publication Date 2023 Jan 9;21(1):3
PubMed 36624481
PubMed Central PMC9830717
DOI 10.1186/s12959-022-00443-6

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