Associated Papers
Cell-Based Small-Molecule Screening Identifying Proteostasis Regulators Enhancing Factor VIII Missense Mutant Secretion.
Srivastava V et al.
Biomolecules, 2025
40305178 (PubMed )
Supplement: biomolecules-15-00458-s001.zip › biomolecules-3505096-supplementary_new_version › Supplementary_figure_S1-S5.pdf
The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A.
Azadmehr S et al.
Archives of Iranian Medicine, 2021
Genetic analysis of non-severe hemophilia A phenotype with A discrepancy between one-stage and chromogenic factor VIII activity assays.
Valikhani A et al.
Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2021
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
Molecular mechanisms of missense mutations that generate ectopic N-glycosylation sites in coagulation factor VIII.
Wei W et al.
The Biochemical Journal, 2018
Identification of 123 previously unreported mutations in the F8 gene of Iranian patients with haemophilia A.
Ravanbod S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012
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