Article
Thrombomodulin promoter mutations, venous thrombosis, and varicose veins.
Arteriosclerosis, thrombosis, and vascular biology - 1 Mar 2001
Le Flem L, Mennen L, Aubry M L, Aiach M, Scarabin P Y, Emmerich J, Alhenc-Gelas M
Abstract excerpt
We analyzed the distal promoter region of the thrombomodulin (TM) gene (nucleotides -300 to -2052) in subjects from the Paris Thrombosis Study (PATHROS), a French case-control study of venous thrombosis, to identify polymorphisms that might modify TM gene expression. Eight novel mutations were found in the 40 DNA samples initially screened. Two of these mutations (-1748G/C and -1208/-1209 del TT) were frequent....
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