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
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
Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A.
Bogdanova N et al.
Human Mutation, 2007
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