Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency
Summary
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 |