Article
Naturally occurring mutations in the thrombomodulin gene leading to impaired expression and function.
Blood - 15 May 2002
Kunz Gabriella, Ohlin Ann-Kristin, Adami Antonella, Zöller Bengt, Svensson Peter, Lane David A
Abstract excerpt
Sporadic mutations in the thrombomodulin (TM) gene occur in patients with both arterial and venous thrombosis, but the effects of these mutations on expression and function are largely unexplored. Full-length wild-type TM complementary DNA (cDNA) was incorporated into vector pcDNA6 for transfection into COS-7 cells for transient expression. Mutagenesis was performed to create 7 TM mutants with natural mutations...
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