Associated Papers
Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.
Borràs N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 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
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Rare inherited coagulation and fibrinolytic defects that challenge diagnostic laboratories.
Mathews N et al.
International Journal of Laboratory Hematology, 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 deficiency of coagulation factors V and VIII: an update.
Zheng C et al.
Seminars in Thrombosis and Hemostasis, 2013
Successful percutaneous coronary intervention in a patient with combined deficiency of FV and FVIII due to novel compound heterozygous mutations in LMAN1.
Patel AJ et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2013
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
Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency.
Neerman-Arbez M et al.
Blood, 1999
ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families.
Nichols WC et al.
Blood, 1999
[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