التفاصيل البيبلوغرافية
| العنوان: |
Hereditary protein C deficiency in Indian patients with venous thrombosis. |
| المؤلفون: |
Pai, Navin, Ghosh, Kanjaksha, Shetty, Shrimati |
| المصدر: |
Annals of Hematology; Sep2012, Vol. 91 Issue 9, p1471-1476, 6p |
| مصطلحات موضوعية: |
GENETIC disorders, PROTEIN C deficiency, VENOUS thrombosis, MOLECULAR pathology, GENETIC mutation, DISEASES, INDIANS (Asians), GENETIC polymorphisms, PATIENTS |
| مصطلحات جغرافية: |
INDIA |
| مستخلص: |
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] |
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| قاعدة البيانات: |
Complementary Index |
