Familial multiple coagulation factor deficiencies: new biologic insight from rare genetic bleeding disorders

@article{Zhang2004FamilialMC,
  title={Familial multiple coagulation factor deficiencies: new biologic insight from rare genetic bleeding disorders},
  author={B. Zhang and D. Ginsburg},
  journal={Journal of Thrombosis and Haemostasis},
  year={2004},
  volume={2}
}
Summary.   Combined deficiency of factor (F)V and FVIII (F5F8D) and combined deficiency of vitamin K‐dependent clotting factors (VKCFD) comprise the vast majority of reported cases of familial multiple coagulation factor deficiencies. Recently, significant progress has been made in understanding the molecular mechanisms underlying these disorders. F5F8D is caused by mutations in two different genes (LMAN1 and MCFD2) that encode components of a stable protein complex. This complex is localized… Expand
Familial deficiency of vitamin K‐dependent clotting factors
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  • Medicine
  • Haemophilia : the official journal of the World Federation of Hemophilia
  • 2008
TLDR
Recent molecular studies have the potential to further the understanding of vitamin K metabolism, γ‐carboxylation, and the functional role this post‐translational modification has for other proteins. Expand
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This review summarizes current data on the pathomechanisms and new genetic findings of combined factor V and VIII deficiency (CF5F8D) which is the most common type of Congenital haemorrhagic disorders characterized by deficiency of two clotting factors. Expand
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