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Thrombosis Research
Volume 125, Issue 3
, Pages 230-234
, March 2010
Hereditary protein C deficiency caused by the Ala267Thr mutation in the protein C gene is associated with symptomatic and asymptomatic venous thrombosis
References
- . Molecular events that control the protein C anticoagulant pathway. Thromb Haemost. 1993;70:29–35
- . Deficiency of protein C in congenital thrombotic disease. J Clin Invest. 1981;68:1370–1373
- The risk of recurrent venous thromboembolism in patients with inherited deficiency of natural anticoagulants antithrombin, protein C and protein S. Haematologica. 2006;91:695–698
- . Increased risk of venous thrombosis in carriers of hereditary protein C deficiency defect. Lancet. 1993;341:134–138
- Homozygous protein C deficiency manifested by massive venous thrombosis in the newborn. N Engl J Med. 1984;310:559–562
- . Severe type I protein C deficiency with neonatal purpura fulminans due to a novel homozygous mutation in exon 6 of the protein C gene. J Thromb Haemost. 2006;4:1152–1153
- . Homozygous protein C deficiency with purpura fulminans: report of a new case and a description of a novel mutation. Blood Coagul Fibrinolysis. 2003;14:303–306
- . Late-onset homozygous protein C deficiency. Lancet. 1991;338:575–576
- . Asymptomatic homozygous protein C deficiency. Acta Haematol. 1990;83:152–155
- . The nucleotide sequence of the gene for human protein C. Proc Natl Acad Sci U S A. 1985;82:4673–4677
- . Evolution and organization of the human protein C gene. Proc Natl Acad Sci U S A. 1986;83:546–550
- Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH. Thromb Haemost. 1995;73:876–889
- Molecular genetic analysis of severe protein C deficiency. Hum Genet. 2000;106:646–653
- Complex association of protein C gene promoter polymorphism with circulating protein C levels and thrombotic risk. Arterioscler Thromb Vasc Biol. 1999;19:1573–1576
- . Genotypic variation in the promoter region of the protein C gene is associated with plasma protein C levels and thrombotic risk. Arterioscler Thromb Vasc Biol. 1995;15:214–218
- . Absence of thrombosis in subjects with heterozygous protein C deficiency. N Engl J Med. 1987;317:991–996
- . Homozygosity for R87H missense mutation and for a rare intron 7 DNA variant (7054G –> A) in the PROC genes of three siblings initially classified as heterozygotes for protein C deficiency. Blood Coagul Fibrinolysis. 1996;7:15–23
- . Protein C deficiency and venous thrombosis–the search for the second genetic defect. Thromb Haemost. 2000;83:360–361
- . Resistance to activated protein C and factor V Leiden as risk factors for venous thrombosis. Thromb Haemost. 1995;74:449–453
- . A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood. 1996;88:3698–3703
- . Venous thromboembolism associated with double heterozygosity for R506Q mutation of factor V and for T298M mutation of protein C in a large family of a previously described homozygous protein C-deficient newborn with massive thrombosis. Blood. 1996;88:877–880
- . Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. Blood. 1994;84:1031–1035
- . The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects. Blood. 1991;78:890–894
- . Chronic disseminated intravascular coagulation and childhood-onset skin necrosis resulting from homozygosity for a protein C Gla domain mutation, Arg15Trp. J Pediatr Hematol Oncol. 2002;24:685–688
- Homozygous protein C deficiency with late onset and recurrent coumarin-induced skin necrosis. Lancet. 1992;339:743–744
- . Late onset of clinical symptoms and recurrent ecchymotic skin lesions in a 12-year-old girl with a severe double heterozygous protein C deficiency. J Pediatr Hematol Oncol. 2004;26:2–4
- . Identification of mutations in 90 of 121 consecutive symptomatic French patients with a type I protein C deficiency. The French INSERM Network on Molecular Abnormalities Responsible for Protein C and Protein S deficiencies. Blood. 1995;86:2598–2605
- Protein C levels are regulated by a quantitative trait locus on chromosome 16: results from the Genetic Analysis of Idiopathic Thrombophilia (GAIT) Project. Arterioscler Thromb Vasc Biol. 2004;24:1321–1325
- . An unknown genetic defect increases venous thrombosis risk, through interaction with protein C deficiency. Am J Hum Genet. 1998;63:569–576
- Genetic screening of candidate genes for a prothrombotic interaction with type I protein C deficiency in a large kindred. Thromb Haemost. 2001;85:82–87
- . Novel mutation in the gamma-glutamyl carboxylase gene resulting in congenital combined deficiency of all vitamin K-dependent blood coagulation factors. Blood. 2000;96:3650–3652
- Vitamin K epoxide reductase genetic polymorphism is associated with venous thromboembolism: results from the EDITH Study. J Thromb Haemost. 2007;5:2020–2024
- . Hunting for the mutation in inherited thrombophilia. Blood Coagul Fibrinolysis. 2004;15:125–127
- . Development of the hemostatic system in the neonate and young infant. Am J Pediatr Hematol Oncol. 1990;12:95–104
- . Location on the human genetic linkage map of 26 genes involved in blood coagulation. Thromb Haemost. 1997;77:873–878
- . Combined occurrence of a heterozygous missense mutation in the protein C gene and allelic exclusion of one protein S allele leading to severe venous thrombosis. Thromb Res. 2001;103:3–8
- Contribution of prothrombin 20210A allele and factor V Leiden mutation to thrombosis risk in thrombophilic families with other hemostatic deficiencies. Haematologica. 2001;86:1200–1208
PII: S0049-3848(09)00248-5
doi: 10.1016/j.thromres.2009.05.013
© 2009 Elsevier Ltd. All rights reserved.
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Thrombosis Research
Volume 125, Issue 3
, Pages 230-234
, March 2010
