Associated Papers
Ribosomal read through as an alternative therapy for patients with hemophilia with nonsense mutations.
Liu Z et al.
Journal of Thrombosis and Haemostasis : Jth, 2026
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
Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing.
Liu Y et al.
Thrombosis and Haemostasis, 2023
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
Spectrum of Causative Mutations in Patients with Hemophilia A in Russia.
Pshenichnikova O et al.
Genes, 2023
Variant spectrum of F8 and F9 in hemophilia patients from southern China and 26 novel variants.
Li F et al.
Frontiers in Genetics, 2023
The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A.
Azadmehr S et al.
Archives of Iranian Medicine, 2021
Molecular classification of blood and bleeding disorder genes.
Baz B et al.
Npj Genomic Medicine, 2021
Variable readthrough responsiveness of nonsense mutations in hemophilia A.
Martorell L et al.
Haematologica, 2020
Spectrum and origin of mutations in sporadic cases of haemophilia A in China.
Lu Y et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018
Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations.
Guo Z et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2018
Detection of F8 mutations in carriers and patients with severe hemophilia A. Identification of a novel mutation.
López-Vásquez L et al.
Investigacion Clinica, 2016
F8 gene mutation profile in Indian hemophilia A patients: Identification of 23 novel mutations and factor VIII inhibitor risk association.
Pinto P et al.
Mutation Research, 2016
Spectrum of F8 gene mutations in haemophilia A patients from Slovenia.
Debeljak M et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012
Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: identification of seven novel mutations.
Albánez S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2011
Influence of the type of F8 gene mutation on inhibitor development in a single centre cohort of severe haemophilia A patients.
Gouw SC et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2011
Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM.
Lin SY et al.
Bmc Medical Genetics, 2008
F8 gene mutation profile and ITT response in a cohort of Italian haemophilia A patients with inhibitors.
Salviato R et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2007
Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects.
Rossetti LC et al.
Haematologica, 2007
Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institution.
Guillet B et al.
Human Mutation, 2006