Associated Papers
Clinical, Laboratory, Molecular, and Reproductive Aspects of Combined Deficiency of Factors V and VIII.
Yakovleva E et al.
Seminars in Thrombosis and Hemostasis, 2025
Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.
Preisler B et al.
Journal of Clinical Medicine, 2021
Combined FV and FVIII deficiency (F5F8D) in a Chinese family with a novel missense mutation in MCFD2 gene.
Wang A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2014
Combined deficiency of coagulation factors V and VIII: an update.
Zheng C et al.
Seminars in Thrombosis and Hemostasis, 2013
Identification of a novel mutation in the MCFD2 gene in a Tunisian family with combined factor V and VIII deficiency.
Hejer E et al.
La Tunisie Medicale, 2012
Unveiling the unfolding pathway of F5F8D disorder-associated D81H/V100D mutant of MCFD2 via multiple molecular dynamics simulations.
Hamza A et al.
Journal of Biomolecular Structure & Dynamics, 2012
Molecular analysis in two Tunisian families with combined factor V and factor VIII deficiency.
Abdallah HE et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010
Crystal structure of the LMAN1-CRD/MCFD2 transport receptor complex provides insight into combined deficiency of factor V and factor VIII.
Wigren E et al.
Febs Letters, 2010
Structural basis for the cooperative interplay between the two causative gene products of combined factor V and factor VIII deficiency.
Nishio M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
EF-hand domains of MCFD2 mediate interactions with both LMAN1 and coagulation factor V or VIII.
Zheng C et al.
Blood, 2010
Recent developments in the understanding of the combined deficiency of FV and FVIII.
Zhang B
British Journal of Haematology, 2009
Combined FV and FVIII deficiency.
Spreafico M et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008
New insights into multiple coagulation factor deficiency from the solution structure of human MCFD2.
Guy JE et al.
Journal of Molecular Biology, 2008
Deletion of 3 residues from the C-terminus of MCFD2 affects binding to ERGIC-53 and causes combined factor V and factor VIII deficiency.
Nyfeler B et al.
Blood, 2008
Mutations in the MCFD2 gene are predominant among patients with hereditary combined FV and FVIII deficiency (F5F8D) in India.
Jayandharan G et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2007
Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2.
Zhang B et al.
Blood, 2006
Familial multiple coagulation factor deficiencies: new biologic insight from rare genetic bleeding disorders.
Zhang B et al.
Journal of Thrombosis and Haemostasis : Jth, 2004
Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex.
Zhang B et al.
Nature Genetics, 2003
[Management of cesarean section under replacement therapy with factor VIII concentrates in a pregnant case with congenital combined deficiency of factor V and factor VIII].
Ueno H et al.
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 1991
[Case report of congenital deficiency of factor V and factor VIII].
Vujaklija-Stipanović K et al.
Bilten Za Hematologiju I Transfuziju, 1979
Structural analysis of two novel mutations in MCFD2 gene causing combined coagulation factors V and VIII deficiency.
Abdallah HE et al.
Blood Cells, Molecules & Diseases, 0