Clinical and Molecular Characterization of Nine Novel Antithrombin Mutations.
Kállai J, Gindele R, Pénzes-Daku K, Balogh G, Bogáti R, Bécsi B, Katona É, Oláh Z, Ilonczai P, Boda Z, Róna-Tas Á, Nemes L, Marton I, Bereczky Z.
Kállai J, et al.
Int J Mol Sci. 2024 Mar 1;25(5):2893. doi: 10.3390/ijms25052893.
Int J Mol Sci. 2024.
PMID: 38474138
Free PMC article.
Clinical and laboratory data from patients were collected, and the nine mutant AT proteins (p.Arg14Lys, p.Cys32Tyr, p.Arg78Gly, p.Met121Arg, p.Leu245Pro, p.Leu270Argfs*14, p.Asn450Ile, p.Gly456delins_Ala_Thr and p.Pro461Thr) were expressed in HEK293 cells; then, Western blotting, …
Clinical and laboratory data from patients were collected, and the nine mutant AT proteins (p.Arg14Lys, p.Cys32Tyr, p.Arg78Gly, p.Met121Arg, …