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
Missense and nonsense mutations and inhibitor development in patients with hemophilia A and B.
Karimi F et al.
Journal of Thrombosis and Thrombolysis, 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
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
An intronic RNA element modulates Factor VIII exon-16 splicing.
Tse V et al.
Nucleic Acids Research, 2024
Molecular Diagnosis of Hemophilia A and Pathogenesis of Novel F8 Variants in Shanxi, China.
Zhang X et al.
Global Medical Genetics, 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
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
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
Mutation characteristic of 103 haemophilia A patients in Vietnam: Identification of novel mutations.
Luu DV et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019
Recurrent and novel disease-causing F8 variants in boys with severe haemophilia A in Poland.
Janczar S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 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 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
First molecular analysis of F8 gene in algeria: identification of two novel mutations.
Abdi M et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2014
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
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
Mutation analysis of factor VIII in Korean patients with severe hemophilia A.
You CW et al.
International Journal of Hematology, 2010
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
DNA microarray analysis for the detection of mutations in hemophilia A.
Berber E et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
Live birth following the first mutation specific pre-implantation genetic diagnosis for haemophilia A.
Michaelides K et al.
Thrombosis and Haemostasis, 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
Identification of 32 novel mutations in the factor VIII gene in Indian patients with hemophilia A.
Ahmed RP et al.
Haematologica, 2005
Seven novel and four recurrent point mutations in the factor VIII (F8C) gene.
Bogdanova N et al.
Human Mutation, 2002
Seven novel and four recurrent point mutations in the factor VIII (F8C) gene.
Bogdanova N et al.
Human Mutation, 2001
Systematic molecular analysis of hemophilia A patients from Colombia.
Yunis LK et al.
Genetics and Molecular Biology, 0