Article
Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians. Mutation in brief #965. Online.
Human mutation - 1 May 2007
Mahajan Anubha, Chavali Sreenivas, Ghosh Saurabh, Kabra Madhulika, Chowdhury Madhumita Roy, Bharadwaj Dwaipayan
Abstract excerpt
Mutations in Factor IX gene (F9) cause X-linked recessive bleeding disorder hemophilia B. Here, we characterized molecular events in nine North Indian hemophiliac families identifying four missense mutations (three novel), two nonsense mutations, and a deletion. We have also captured the mutational spectrum of this disease in India based on available reports and established their genotype/phenotype relationships....
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