Molecular basis of hereditary factor VII deficiency in India: five novel mutations including a double missense mutation (Ala191Glu; Trp364Cys) in 11 unrelated patients

Abstract

We have studied the molecular basis of factor (F) VII deficiency in 11 unrelated Indian patients. Mutations were identified in all 11 and included 5 missense, 2 nonsense and a frame shift mutation. Five of these were novel. These mutations were considered to be causative of disease because of their nature, evolutionary conservation and molecular modeling. This is the first report of mutations in patients with FVII deficiency from southern India.