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
Spectrum of Factor VIII Gene Variants in 78 Patients with Hemophilia A in Guangxi Province, China, Including Nine Novel Variants: A Descriptive Study
Jiang J et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2025
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
Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.
Borràs N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
Nonsense Mutations in Rare and Ultra-Rare Human Disorders: An Overview.
Vitale E et al.
Iubmb Life, 2025
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
The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A.
Azadmehr S et al.
Archives of Iranian Medicine, 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
Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations
Atik T et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2020
Identification of candidate nonsense mutations of FVIII for ribosomal readthrough therapy.
Liu Z et al.
Haematologica, 2019
Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies.
Balestra D et al.
International Journal of Molecular Sciences, 2019
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
Identification of deep intronic individual variants in patients with hemophilia A by next-generation sequencing of the whole factor VIII gene.
Inaba H et al.
Research and Practice in Thrombosis and Haemostasis, 2017
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
Similarity in joint and mucous bleeding syndromes in type 2N von Willebrand disease and severe hemophilia A coexisting with type 1 von Willebrand disease in two Chinese pedigrees.
Qin HH et al.
Blood Cells, Molecules & Diseases, 2014
F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity.
Miller CH 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
[Phenotype and genotype analysis of three Chinese pedigrees with von Willebrand disease].
Qin HH et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2011
Factor VIII gene (F8) mutations as predictors of outcome in immune tolerance induction of hemophilia A patients with high-responding inhibitors.
Coppola A et al.
Journal of Thrombosis and Haemostasis : Jth, 2009
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
[A case of von Willebrand disease type 3 misdiagnosed as hemophilia A].
Lee AC et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2007
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
DNA microarray analysis for the detection of mutations in hemophilia A.
Berber E et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
Immune tolerance induction with recombinant factor VIII in hemophilia A patients with high responding inhibitors.
Rocino A et al.
Haematologica, 2006
Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype.
Hill M et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2005