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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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Detalles Bibliográficos
Autores principales: Maruyama, Keiko, Kokame, Koichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7845069/
https://www.ncbi.nlm.nih.gov/pubmed/33537542
http://dx.doi.org/10.1002/rth2.12456