@article{10.1182/blood.V89.4.1467,
    author = {Faioni, Elena M. and Merati, Giuliana and Peyvandi, Flora and Bettini, Paola M. and Mannucci, Pier Mannuccio},
    title = {The G1456 to T Mutation in the Thrombomodulin Gene Is Not Frequent in Patients With Venous Thrombosis},
    journal = {Blood},
    volume = {89},
    number = {4},
    pages = {1467-1467},
    year = {1997},
    month = {02},
    abstract = {To the Editor:Thrombomodulin is a major component of the protein C anticoagulant pathway.1 Biochemical detection of thrombomodulin defects are hampered by its location in the endothelial cell. The characterization of molecular alterations in the thrombomodulin gene of selected patient populations represents an alternative diagnostic approach. Recently, a point mutation G1456 to T in the thrombomodulin gene of a 45-year-old man with venous thrombosis and that of his son was detected.2 The mutation predicts an Asp468 to Tyr amino acid substitution and creates a novel restriction site for Rsa I digestion in the gene. To assess the frequency of this mutation in patients with venous thrombosis, we screened 100 Italian patients consecutively referred to the Thrombosis Center for a documented episode of venous thrombosis and 100 age- and sex-matched asymptomatic controls. The most frequent thrombotic episode was deep vein thrombosis of the lower limbs (54\%), followed by superficial thrombophlebitis (21\%), pulmonary embolism (14\%), cerebral vein thrombosis (7\%), and visceral vein thrombosis (4\%). Characteristics of the patients are shown in Table 1.},
    issn = {0006-4971},
    doi = {10.1182/blood.V89.4.1467},
    url = {https://doi.org/10.1182/blood.V89.4.1467},
    eprint = {https://ashpublications.org/blood/article-pdf/89/4/1467/1410182/1467.pdf},
}