Protein C deficiency with recurrent systemic thrombosis associated with compound heterozygous PROC missense variants

Protein C deficiency with recurrent systemic thrombosis associated with compound heterozygous PROC missense variants

Herein, we identified compound heterozygous PROC missense variants in a protein C deficient patient with recurrent thrombotic events, including intestinal necrosis, extrahepatic portal vein obstruction, and lower limb venous thrombosis. The patient's protein C activity and antigen levels were e...

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Bibliographic Details
Main Authors: Mikio Shiba, Shuichiro Higo, Yu Morishita, Yasuhiro Ichibori, Yoshihiro Kin, Yasushi Sakata, Yoshiharu Higuchi
Format: Article
Language:English
Published: Elsevier 2025-02-01
Series:American Heart Journal Plus
Subjects:
Thrombosis
Inherited protein C deficiency
Exome sequencing
Online Access:http://www.sciencedirect.com/science/article/pii/S2666602224001393
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