Identification of a novel mutation in the MCFD2 gene in a Tunisian family with combined factor V and VIII deficiency

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Published Apr 25, 2012
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Vol. 90 No. 4 (2012): Issue Apr 2012

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Elmahmoudi Hejer
Laatiri Med Adnen
Jlizi Asma
Makhlouf Ibtihel
Amel Benammar-Elgaaied
Emna Gouider

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References

  1. Zhang B. Recent developments in the understanding of the combined deficiency of FV and FVIII. Br J Haematol 2009; 145: 15-23.
  2. Guy JE, Wigren E, Svard M, et al. New insights into multiple coagulation factor deficiency from the solution structure of human MCFD2. J Mol Biol 2008; 381, 941-55.
  3. Segal A, Zivelin A, Rosenberg N, et al. A mutation in LMAN1 (ERGIC-53) causing combined factor V and factor VIII deficiency is prevalent in Jews originating from the island of Djerba in Tunisia. Blood Coagul Fibrinolysis. 2004; 15:99-102.
  4. Abdallah HE, Gouider E, Ben Amor M, et al. Molecular analysis in two Tunisian families with combined factor V and factor VIII deficiency. Haemophilia 2010; 16, 801-4.
  5. Abdallah HE, Gouider E, Stambouli N et al. Structural analysis of two novel mutations in MCFD2 gene causing combined coagulation factors V and VIII deficiency. Blood Cells Mol Dis. 2010; 44:120-3.