Associated Papers
Commentary on "Novel p.C252G and p.C280X mutations in EGF-1 domain of thrombomodulin lead to a thrombosis-bleeding syndrome".
Iwaki T
Journal of Thrombosis and Haemostasis : Jth, 2025
A novel homozygous variant of the thrombomodulin gene causes a hereditary bleeding disorder.
Osada M et al.
Blood Advances, 2021
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