Article
Mutations in coagulation factor XIII A gene in eight unrelated Indians. Five novel mutations identified by a novel PCR-CSGE approach.
Thrombosis and haemostasis - 1 Mar 2006
Jayandharan Giridhara R, Viswabandya Auro, Baidya Shoma, Nair Sukesh C, George Biju, Mathews Vikram, Chandy Mammen, Srivastava Alok
Abstract excerpt
Factor XIII deficiency is a rare autosomal (1:2,000,000) recessive disorder of blood coagulation usually attributed to mutations in the coagulation factor XIII (FXIII) A gene. We have studied the molecular basis of FXIII deficiency in eight unrelated South Indian patients. Their diagnosis was based on clinical history, normal plasma clotting times and increased solubility of fibrin clot in 5 mol/l urea. Genomic...
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