Associated Papers
F8 Variants and Inhibitor Development in a Multiethnic Cohort of Nonsevere Haemophilia A.
Lim MY et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function.
Chan MV et al.
Haematologica, 2021
Genetics and Hemostatic Potential in Persons with Mild to Moderate Hemophilia A with a Discrepancy between One-Stage and Chromogenic FVIII Assays.
Strålfors A et al.
Thrombosis and Haemostasis, 2021
In silico and in vitro evaluation of the impact of mutations in non-severe haemophilia A patients on assay discrepancies.
Pezeshkpoor B et al.
Annals of Hematology, 2019
Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.
Marín Ò et al.
Scientific Reports, 2019
31267011 (PubMed )
Supplement: 41598_2019_45916_MOESM2_ESM.xlsx › Variants_used
A novel synonymous variant in the F8 gene, p.(Leu40=)/c.120C>A, likely causes mild haemophilia A.
Inaba H et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018
Combined variants in factor VIII and prostaglandin synthase-1 amplify hemorrhage severity across three generations of descendants.
Nance D et al.
Journal of Thrombosis and Haemostasis : Jth, 2016
Effect of F8 B domain gene variants on synthesis, secretion, activity and stability of factor VIII protein.
Pahl S et al.
Thrombosis and Haemostasis, 2014
Molecular mechanisms underlying hemophilia A phenotype in seven females.
Pavlova A et al.
Journal of Thrombosis and Haemostasis : Jth, 2009
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