Three factor 11 mutations associated with factor XI deficiency in a Turkish family
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CitationHancer, V. S., Gokgoz, Z., & Buyukdogan, M. (2018). Three Factor 11 Mutations Associated with Factor XI Deficiency in a Turkish Family. TURKISH JOURNAL OF HEMATOLOGY, 35(1), 79–80. https://doi.org/10.4274/tjh.2017.0140
Factor XI (FXI) is a homodimeric serine protease, which is produced in the liver and circulates in the plasma complexed with high-molecular-weight kininogen. FXI plays an important role in the amplification of the initial coagulation response via a positive feedback mechanism for the generation of additional thrombin [1,2,3,4]. Congenital FXI deficiency is characterized by decreased levels or activity of FXI in the plasma and may cause an inherited bleeding disorder. The FXI gene is located on 4q34- 35 and consists of 15 exons.