Associated Papers
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
Mutation characteristic of 103 haemophilia A patients in Vietnam: Identification of novel mutations.
Luu DV et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019
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
Most factor VIII B domain missense mutations are unlikely to be causative mutations for severe hemophilia A: implications for genotyping.
Ogata K et al.
Journal of Thrombosis and Haemostasis : Jth, 2011
Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A.
Santacroce R et al.
Journal of Human Genetics, 2008
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