Thrombophilia due to heparin cofactor 2 deficiency is an autosomal dominant disorder caused by mutations of the SERPIND1-gene.
1. |
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2. |
Andersson TR et al. (1987) Low heparin cofactor II associated with abnormal crossed immunoelectrophoresis pattern in two Norwegian families. |
3. |
Blinder MA et al. (1989) Heparin cofactor IIOslo. Mutation of Arg-189 to His decreases the affinity for dermatan sulfate. |
4. |
Kondo S et al. (1996) Molecular and cellular basis for type I heparin cofactor II deficiency (heparin cofactor II Awaji). |
5. |
Kanagawa Y et al. (2001) Molecular mechanism of type I congenital heparin cofactor (HC) II deficiency caused by a missense mutation at reactive P2 site: HC II Tokushima. |
6. |
Matsuo T et al. (1992) Hereditary heparin cofactor II deficiency and coronary artery disease. |
7. |
Tran TH et al. (1985) Association of hereditary heparin co-factor II deficiency with thrombosis. |
8. |
Sie P et al. (1985) Constitutional heparin co-factor II deficiency associated with recurrent thrombosis. |
9. |
Villa P et al. (1999) Hereditary homozygous heparin cofactor II deficiency and the risk of developing venous thrombosis. |
10. |
OMIM.ORG article Omim 612356 |