1. Hereditary protein C deficiency in Indian patients with venous thrombosis.
- Author
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Pai, Navin, Ghosh, Kanjaksha, and Shetty, Shrimati
- Subjects
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GENETIC disorders , *PROTEIN C deficiency , *VENOUS thrombosis , *MOLECULAR pathology , *GENETIC mutation , *DISEASES , *INDIANS (Asians) , *GENETIC polymorphisms , *PATIENTS - Abstract
Approximately, 4-11 % of the patients with idiopathic venous thrombosis (VT) show protein C (PC) deficiency. The molecular pathology of PC deficiency was analyzed in 102 patients; 98 healthy controls were also studied to assess the association of various polymorphisms with reduced PC levels. PROC gene mutations were detected only in 8 (7.8 %) patients with reduced PC levels. PROC promoter region CG polymorphisms showed statistically significant association with reduced PC levels ( p < 0.001). PC deficiency in Indian VT patients can, thus, largely be explained by PROC gene promoter CG polymorphisms; only a small fraction of the patients show specific mutations in PROC gene. [ABSTRACT FROM AUTHOR]
- Published
- 2012
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