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Article

A case of thrombomodulin mutation causing defective thrombin binding with absence of protein C and TAFI activation.

Blood advances - 23 Jun 2020

Okada Masahiko, Tominaga Norio, Honda Goichi, Nishioka Junji, Akita Nobuyuki, Hayashi Tatsuya, Suzuki Koji, Moriuchi Hiroyuki

Abstract excerpt

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 of glycine by aspartate at amino acid residue 412 (Gly412Asp) in the thrombin-binding domain of the thrombomodulin...

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Identifiers

PMID: 32556284
DOI: 10.1182/bloodadvances.2019001155
PMCID: PMC7322956

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Source receipt: pubmed, retrieved 7 Sept 2026.

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