Associated Papers
Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers.
Ho SKL et al.
American Journal of Medical Genetics. Part A, 2024
Mutation detection and inhibitor analysis of 43 children with severe hemophilia A in a single center: three novel mutations.
Yang C et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024
Translational readthrough at F8 nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association.
Testa MF et al.
Haematologica, 2023
35924581 (PubMed )
Supplement: 2022_281279_TESTA_SUPPL.pdf
Genetic analysis of carrier status in female members of Japanese hemophilia families.
Shinozawa K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Spectrum of F8 Genotype and Genetic Impact on Inhibitor Development in Patients with Hemophilia A from Multicenter Cohort Studies (J-HIS) in Japan.
Shinozawa K et al.
Thrombosis and Haemostasis, 2021
Identification of candidate nonsense mutations of FVIII for ribosomal readthrough therapy.
Liu Z et al.
Haematologica, 2019
Prediction of factor VIII inhibitor development in the SIPPET cohort by mutational analysis and factor VIII antigen measurement.
Spena S et al.
Journal of Thrombosis and Haemostasis : Jth, 2018
Spectrum of F8 gene mutations in haemophilia A patients from a region of Italy: identification of 23 new mutations.
Riccardi F et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010
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