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A case of thrombomodulin mutation causing defective thrombin binding with absence of protein C and TAFI activation
Thrombomodulin functions as an anticoagulant through thrombin binding and protein C activation. We herein report the first case of hereditary functional thrombomodulin deficiency presenting with recurrent subcutaneous hemorrhage and old cerebral infarction. The patient had a homozygous substitution...
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| Pubblicato in: | Blood Adv |
|---|---|
| Autori principali: | , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
American Society of Hematology
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7322956/ https://ncbi.nlm.nih.gov/pubmed/32556284 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/bloodadvances.2019001155 |
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