Associated Papers
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
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
Analysis of newly detected mutations in the MCFD2 gene giving rise to combined deficiency of coagulation factors V and VIII.
Elmahmoudi H et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2011
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
Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.
Zhang B et al.
Blood, 2008
Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2.
Zhang B et al.
Blood, 2006
[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