Associated Papers
Deleterious variants cluster in the A3 domain of factor VIII in people with severe hemophilia A and inhibitors.
Zuccherato LW et al.
Research and Practice in Thrombosis and Haemostasis, 2025
41169533 (PubMed )
Supplement: mmc1.pdf
Genetic Analysis and Reproductive Interventions for Two Rare Families Affected by Severe Haemophilia A.
Yuan S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
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
Computational and molecular approaches for predicting unreported causal missense mutations in Belgian patients with haemophilia A.
Lannoy N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012
Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A.
Bogdanova N et al.
Human Mutation, 2007
Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII.
Cai XH et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
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