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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Publicado en:Blood Adv
Autores principales: Okada, Masahiko, Tominaga, Norio, Honda, Goichi, Nishioka, Junji, Akita, Nobuyuki, Hayashi, Tatsuya, Suzuki, Koji, Moriuchi, Hiroyuki
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society of Hematology 2020
Materias:
Thrombosis and Hemostasis
Acceso en línea: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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