The molecular genetics of familial venous thrombosis.
Inherited defects of antithrombin III, protein C, protein S, heparin cofactor II, plasminogen and the fibrinogens are thought to be responsible for between 10 and 15% of all patients presenting with recurrent venous thrombosis. The structure, function and expression of these genes and the nature of the gene lesions underlying the deficiency states are reviewed in detail.
Cooper
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Molecular Genetics Section, Thrombosis Research Institute, Chelsea, London, UK.
D020152:Antithrombin III Deficiency; D001798:Blood Proteins / Q000172:deficiency; D004198:Disease Susceptibility; D006023:Glycoproteins / Q000172:deficiency; D015844:Heparin Cofactor II / Q000172:deficiency; D006801:Humans; D010958:Plasminogen / Q000172:deficiency; D012150:Polymorphism, Restriction Fragment Length; D020151:Protein C Deficiency; D017293:Protein S; D013924:Thrombophlebitis / Q000235:genetics*
D001798:Blood Proteins; D006023:Glycoproteins; D017293:Protein S; D015844:Heparin Cofactor II; D010958:Plasminogen