Associated Papers
F8 Variants and Inhibitor Development in a Multiethnic Cohort of Nonsevere Haemophilia A.
Lim MY et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
Cell-Based Small-Molecule Screening Identifying Proteostasis Regulators Enhancing Factor VIII Missense Mutant Secretion.
Srivastava V et al.
Biomolecules, 2025
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
The impact of concurrent X chromosome anomalies on diagnosis and bleeding phenotype in children with hemophilia: A single-institution case series.
Soffer E et al.
Pediatric Blood & Cancer, 2023
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
Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.
Marín Ò et al.
Scientific Reports, 2019
A decreased and less sustained desmopressin response in hemophilia A carriers contributes to bleeding.
Candy V et al.
Blood Advances, 2018
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 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
The molecular analysis of haemophilia A: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network.
Keeney S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2005