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Carrier frequencies of antithrombin, protein C, and protein S deficiency variants estimated using a public database and expression experiments

BACKGROUND: Genetic deficiencies of antithrombin (AT), protein C (PC), and protein S (PS) are risk factors for venous thromboembolism. In the general population, the prevalence of heterozygous deficiency of AT, PC, and PS are reported as approximately 0.02%‐0.2%, 0.2%‐0.4%, and 0.03%‐0.5%, respectiv...

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Publicat a:Res Pract Thromb Haemost
Autors principals: Maruyama, Keiko, Kokame, Koichi
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2020
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7845069/
https://ncbi.nlm.nih.gov/pubmed/33537542
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/rth2.12456
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