Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The SERPIND1 gene encodes a serpin which is involved in regulation of coagulation. Mutations cause autosomal dominant thrombophilia due to heparin cofactor 2 deficiency.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Herzog R et al. (1991) Complete nucleotide sequence of the gene for human heparin cofactor II and mapping to chromosomal band 22q11. 
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| 2. |
Andersson TR et al. (1987) Low heparin cofactor II associated with abnormal crossed immunoelectrophoresis pattern in two Norwegian families.
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| 3. |
Blinder MA et al. (1989) Heparin cofactor IIOslo. Mutation of Arg-189 to His decreases the affinity for dermatan sulfate.
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| 4. |
Kondo S et al. (1996) Molecular and cellular basis for type I heparin cofactor II deficiency (heparin cofactor II Awaji).
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| 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.
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| 6. |
Blinder MA et al. (1988) Heparin cofactor II: cDNA sequence, chromosome localization, restriction fragment length polymorphism, and expression in Escherichia coli.
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| 7. |
None (1986) A new member of the plasma protease inhibitor gene family.
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| 8. |
Bernardi F et al. (1996) A heparin cofactor II mutation (HCII Rimini) combined with factor V Leiden or type I protein C deficiency in two unrelated thrombophilic subjects.
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| 9. |
Aihara K et al. (2004) Heparin cofactor II is a novel protective factor against carotid atherosclerosis in elderly individuals.
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| 10. |
Vicente CP et al. (2007) Accelerated atherogenesis and neointima formation in heparin cofactor II deficient mice.
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| 11. |
NCBI article NCBI 3053
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| 12. |
OMIM.ORG article Omim 142360
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| 13. |
Wikipedia article Wikipedia EN (Heparin_cofactor_II)
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