Associated Papers
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
Noninversion Variants in Sporadic Hemophilia A Originate Mostly from Females.
Chen M et al.
International Journal of Molecular Sciences, 2025
Neonatal Presentation of Severe Hemophilia A: An Original Case Report and a Literature Review.
Alboreto E et al.
Children (basel, Switzerland), 2024
Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers.
Ho SKL et al.
American Journal of Medical Genetics. Part A, 2024
De Novo Noninversion Variants Implicated in Sporadic Hemophilia A: A Variant Origin and Timing Study.
Chen M et al.
International Journal of Molecular Sciences, 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
Determining common variants in patients with haemophilia A in South Vietnam and screening female carriers in their family members.
Nguyen BST et al.
Journal of Clinical Pathology, 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
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
Genetic causes of haemophilia in women and girls.
Miller CH et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 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
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
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
Identification of mutations in the F8 and F9 gene in families with haemophilia using targeted high-throughput sequencing.
Lyu C et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 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