Associated Papers
Cell-Based Small-Molecule Screening Identifying Proteostasis Regulators Enhancing Factor VIII Missense Mutant Secretion.
Srivastava V et al.
Biomolecules, 2025
Unravelling the effect of blood group on FVIII:C levels and response to DDAVP in 20 males with a single genotype (Twillingate Variant) causing Haemophilia A.
Shu M et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2024
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL
Prediction of hemophilia A severity using a small-input machine-learning framework.
Lopes TJS et al.
Npj Systems Biology and Applications, 2021
34035274 (PubMed )
Supplement: 41540_2021_183_MOESM3_ESM.xlsx › Predictions___Clinical_reports
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
Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity.
Donadon I et al.
Haematologica, 2018
Principles of genetic variations and molecular diseases: applications in hemophilia A.
Lannoy N et al.
Critical Reviews in Oncology/hematology, 2016
Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence?
Lannoy N et al.
Thrombosis Research, 2015
The Canadian "National Program for hemophilia mutation testing" database: a ten-year review.
Rydz N et al.
American Journal of Hematology, 2013
Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development.
Repessé Y et al.
Journal of Thrombosis and Haemostasis : Jth, 2007
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