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Phenotypic and Genotypic Analysis of a Hereditary Antithrombin Deficiency Pedigree Due to a Novel SERPINC1 Mutation (p.Met281Thr)
DOI 10.1055/a-1145-4224
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Nachweis in CareLit
Autor:innenLiu, S.; Luo, S.; Yang, L.; Wang, M.; Jin, Y.; Li, X.; Xu, Q.
ZeitschriftZeitschrift für Orthopädie und Unfallchirurgie
Ausgabe05/2020
Jahrgang / SeitenJg. 40 · S. 687 bis 690
Kernaussage aus der Literatur
Abstract-Vorschau
AbstractAntithrombin (AT) is one of the physiological anticoagulants that are mainly synthesized in the liver. As a protease inhibitor belonging to the serpin superfamily, AT is able to inactivate thrombin and inhibit activated coagulation factors IX, X, XI, and XII (FIXa, FXa, FXIa, and FXIIa).1 Moreover, it has been found that AT can inhibit activated FVII (FVIIa) by accelerating dissociation of FVIIa–tissue facto…
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Zitierempfehlung
Liu, S.; Luo, S.; Yang, L.; Wang, M.; Jin, Y.; Li, X.; Xu, Q (2020) Phenotypic and Genotypic Analysis of a Hereditary Antithrombin Deficiency Pedigree Due to a Novel SERPINC1 Mutation (p.Met281Thr). Zeitschrift für Orthopädie und Unfallchirurgie, 40 (05), 687 bis 690. https://doi.org/10.1055/a-1145-4224
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