Condition: Thrombophilia due to Thrombomodulin Defect


rs41348347 in THBD gene and Thrombophilia due to Thrombomodulin Defect PMID 12139752 2002 Mutations in the thrombomodulin gene are rare in patients with severe thrombophilia.

PMID 9198186 1997 Thrombomodulin gene variations and thromboembolic disease.

PMID 7811989 1995 The first mutation identified in the thrombomodulin gene in a 45-year-old man presenting with thromboembolic disease.