Associated Papers
The genetic spectrum of rare bleeding disorders.
Mohsenian S et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
Clinical, Laboratory, Molecular, and Reproductive Aspects of Combined Deficiency of Factors V and VIII.
Yakovleva E et al.
Seminars in Thrombosis and Hemostasis, 2025
Heterozygous large deletion mimicking homozygous substitution in MCFD2 in a patient with combined Factor V and Factor VIII deficiency.
Rezigue H et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2024
Rare inherited coagulation and fibrinolytic defects that challenge diagnostic laboratories.
Mathews N et al.
International Journal of Laboratory Hematology, 2023
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
Combined deficiency of coagulation factors V and VIII: an update.
Zheng C et al.
Seminars in Thrombosis and Hemostasis, 2013
A synonymous mutation in LMAN1 creates an ectopic splice donor site and causes combined deficiency of FV and FVIII.
Zhu M et al.
Journal of Thrombosis and Haemostasis : Jth, 2012
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
Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.
Zhang 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
Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene in Indian families with combined deficiency of factor V and VIII.
Mohanty D et al.
American Journal of Hematology, 2005
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