Associated Papers
Rare inherited coagulation and fibrinolytic defects that challenge diagnostic laboratories.
Mathews N et al.
International Journal of Laboratory Hematology, 2023
Separate roles of LMAN1 and MCFD2 in ER-to-Golgi trafficking of FV and FVIII.
Zhang Y et al.
Blood Advances, 2023
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
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
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
The first case of combined coagulation factor V and coagulation factor VIII deficiency in Poland due to a novel p.Tyr135Asn missense mutation in the MCFD2 gene.
Ivaskevicius V et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2008
[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