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
Exploring gene editing as a potential therapeutic strategy for hemophilia.
Kumarasamy N et al.
Frontiers in Bioengineering and Biotechnology, 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
Hybridization capture long-read sequencing and de novo assembly of homologous haplotypes: a comprehensive hemophilia test.
Liu B et al.
Blood Advances, 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
DNA base editing corrects common hemophilia A mutations and restores factor VIII expression in in vitro and ex vivo models.
Tonetto E et al.
Journal of Thrombosis and Haemostasis : Jth, 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
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
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
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
Factor VIII Antigen, Activity, and Mutations in Hemophilia A.
Nair PS et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 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
Mutations in intron 1 and intron 22 inversion negative haemophilia A patients from Western India.
Nair PS et al.
Plos One, 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
Computational and molecular approaches for predicting unreported causal missense mutations in Belgian patients with haemophilia A.
Lannoy N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012
Mutation analysis of factor VIII in Korean patients with severe hemophilia A.
You CW et al.
International Journal of Hematology, 2010
Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects.
Rossetti LC et al.
Haematologica, 2007
Somatic mosaicism in hemophilia A: a fairly common event.
Leuer M et al.
American Journal of Human Genetics, 2001