Associated Papers
Comprehensive Screening of Genetic Variants in the Coding Region of F8 in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian Cohort.
Sarmiento Doncel S et al.
Life (basel, Switzerland), 2024
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
Characterization of five associations of F8 missense mutations containing FVIII B domain mutations.
Jourdy Y et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 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
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