Associated Papers
Variant analysis of F8 in 123 patients with hemophilia A: Identification of 18 novel variants.
Teng Y et al.
Thrombosis Research, 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
Mutational Profile in Romanian Patients with Hemophilia A.
Grigore A et al.
International Journal of Molecular Sciences, 2024
Unearthing the genotype-inhibitor phenotype association in severe haemophilia A: A north Indian cohort study.
Ray D et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2024
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
Generation of iPSC line from urine cells of hemophilia A with F8 (p. R814X) mutation.
Sun W et al.
Stem Cell Research, 2022
The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A.
Azadmehr S et al.
Archives of Iranian Medicine, 2021
Genomic alterations in the F8 gene correlating with severe hemophilia A in Egyptian patients.
Mosaad RM et al.
Molecular Genetics & Genomic Medicine, 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
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
Application of indirect linkage analysis and direct genotyping to hemophilia A carrier detection in Sichuan, China.
Sun P et al.
Genetics and Molecular Research : Gmr, 2015
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 analysis of factor VIII in Korean patients with severe hemophilia A.
You CW et al.
International Journal of Hematology, 2010
Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development.
Repessé Y et al.
Journal of Thrombosis and Haemostasis : Jth, 2007
Somatic mosaicism in hemophilia A: a fairly common event.
Leuer M et al.
American Journal of Human Genetics, 2001
Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data.
Ivaskevicius V et al.
British Journal of Haematology, 2001
[Value of several genetic markers in detecting heterozygous carriers of a gene for hemophilia A].
Tokarev IuN et al.
Problemy Gematologii I Perelivaniia Krovi, 1977