title: Directed search for thrombomodulin gene mutations.
abstract: Thrombomodulin is a principle thrombin receptor located on the vascular endothelium. Thrombomodulin alters the specificity of thrombin, redirecting its procoagulant function to an anticoagulant function by making it a more efficient activator of protein C. While mutation of the genes of other components of this anticoagulant mechanism, protein C, protein S and factor V, is known to predispose towards venous thromboembolism, there are only a few reports of the investigation of thrombomodulin gene mutation. We present the design and evaluation of a strategy to investigate thrombomodulin gene mutation in arterial and venous thrombosis.
authors.affiliation: Department of Haematology, Charing Cross and Westminster Medical School, London.
authors.forename: H
authors.initials: H
authors.lastname: Ireland
authors.forename: K
authors.initials: K
authors.lastname: Kyriakoulis
authors.forename: G
authors.initials: G
authors.lastname: Kunz
authors.forename: D A
authors.initials: DA
authors.lastname: Lane
mesh_terms: D002561:Cerebrovascular Disorders / Q000235:genetics; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods*; D005787:Gene Frequency; D005796:Genes; D006801:Humans; D009203:Myocardial Infarction / Q000235:genetics; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D013917:Thrombin / Q000378:metabolism; D013923:Thromboembolism / Q000235:genetics*; D018180:Thrombomodulin / Q000235:genetics*
chemical_list: D003062:Codon; D018180:Thrombomodulin; D013917:Thrombin