Molecular pathology of haemophilia B: identification of five novel mutations including a LINE 1 insertion in Indian patients.

Abstract excerpt

Heterogeneous mutations in factor IX (FIX) gene cause haemophilia B and a large number of mutations have been characterized. However, reports on gene defects among Indian haemophilia B patients are rare despite a high estimate of such patients in the country. We report identification of 22 independent mutations including five novel mutations in 24 unrelated patients. The novel gene defects include two point...

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