Article
The first mutation identified in the thrombomodulin gene in a 45-year-old man presenting with thromboembolic disease.
Blood - 15 Jan 1995
Ohlin A K, Marlar R A
Abstract excerpt
Thrombomodulin (TM) is the anticoagulant endothelial cell membrane-bound protein cofactor in the thrombin-mediated activation of protein C (PC). It has been clearly demonstrated that the anticoagulant and profibrinolytic functions of the PC system are important for the prevention of a thromboembo...
Topics
- Adult
- Alleles
- Base Sequence
- DNA Mutational Analysis
- Female
- Gene Frequency
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Point Mutation
- Polymorphism, Restriction Fragment Length
- Polymorphism, Single-Stranded Conformational
- Pulmonary Embolism
- Thrombomodulin
