Molecular mechanisms accounting for fibrinogen deficiency: from large deletions to intracellular retention of misfolded proteins

@article{Vu2007MolecularMA,
  title={Molecular mechanisms accounting for fibrinogen deficiency: from large deletions to intracellular retention of misfolded proteins},
  author={D. Vu and M. Neerman-Arbez},
  journal={Journal of Thrombosis and Haemostasis},
  year={2007},
  volume={5}
}
  • D. Vu, M. Neerman-Arbez
  • Published 2007
  • Medicine, Biology
  • Journal of Thrombosis and Haemostasis
  • Summary.  Fibrinogen, the soluble precursor of fibrin, which is the main protein constituent of the blood clot, is synthesized in hepatocytes in the form of a hexamer composed of two sets of three polypeptides (Aα, Bβ, and γ). Each polypeptide is encoded by a distinct gene, FGA, FGB and FGG, all three clustered in a region of 50 kb on 4q32. Congenital afibrinogenemia is characterized by the complete absence of fibrinogen. The first causative mutation for this disease was identified in Geneva in… CONTINUE READING
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