Associated Papers
F9 missense variant hot spots associated with qualitative protein defects causing hemophilia B.
van Duijl TT et al.
Blood Vessels, Thrombosis & Hemostasis, 2025
Founder Variants in the Mexican Population: A Systematic Review.
Harari-Arakindji S et al.
Archives of Medical Research, 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
Evaluation of discrepancy between clot-based and chromogenic factor IX coagulation assays in non-severe hemophilia B patients and identification of the causing mutations.
Mahdavimand M et al.
Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2025
Identification of Novel F9 Gene Variants in 143 Vietnamese Patients with Hemophilia B.
Bach KQ et al.
Journal of Blood Medicine, 2025
Genotype-phenotype analyses of Iranian patients with hemophilia B (Leyden -) and hemophilia B (Leyden +): A single-center study.
Moghadam AA et al.
Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2024
Clinical Implications of Discrepancy between One-Stage Clotting and Chromogenic Factor IX Activity in Hemophilia B.
Schmidt DE et al.
Thrombosis and Haemostasis, 2024
Safety and Efficacy of Recombinant Fusion Protein Linking Coagulation Factor IX with Albumin (rIX-FP) in Previously Untreated Patients with Hemophilia B.
Lemons R et al.
Th Open : Companion Journal to Thrombosis and Haemostasis, 2024
Comprehensive analysis of genotypes and phenotypes in 23 Chinese patients with hemophilia B: Identification of five novel variants.
Lu L et al.
International Journal of Laboratory Hematology, 2023
Genetic causes of haemophilia in women and girls.
Miller CH et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
Natural history study of factor IX deficiency with focus on treatment and complications (B-Natural).
Shapiro AD et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
Mathematical model of thrombin generation and bleeding phenotype in Amish carriers of Factor IX:C deficiency vs. controls.
Gupta S et al.
Thrombosis Research, 2019
Using dried blood spots for variant analysis for patients with haemophilia.
Amos LE et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019
Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.
Katneni UK et al.
Molecular Genetics & Genomic Medicine, 2019
A new in silico approach to investigate molecular aspects of factor IX missense causative mutations and their impact on the hemophilia B severity.
Meireles MR et al.
Human Mutation, 2019
Molecular characterization of haemophilia B patients in southern Brazil.
Meireles MR et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2017
Discrepancies between the one-stage clotting assay and the chromogenic assay in haemophilia B.
Kihlberg K et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2017
Molecular Analysis of Factor VIII and Factor IX Genes in Hemophilia Patients: Identification of Novel Mutations and Molecular Dynamics Studies.
Al-Allaf FA et al.
Journal of Clinical Medicine Research, 2017
Usual and unusual mutations in a cohort of Belgian patients with hemophilia B.
Lannoy N et al.
Thrombosis Research, 2017
Survey of the anti-factor IX immunoglobulin profiles in patients with hemophilia B using a fluorescence-based immunoassay.
Boylan B et al.
Journal of Thrombosis and Haemostasis : Jth, 2016
[Mutational Analysis of Hemophilia B in Russia: Molecular-Genetic Study].
Surin VL et al.
Genetika, 2016
Hemophilia B: molecular pathogenesis and mutation analysis.
Goodeve AC
Journal of Thrombosis and Haemostasis : Jth, 2015
Mutation analysis of a cohort of US patients with hemophilia B.
Li T et al.
American Journal of Hematology, 2014
Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.
Radic CP et al.
Thrombosis and Haemostasis, 2013
Analysis of F9 point mutations and their correlation to severity of haemophilia B disease.
Hamasaki-Katagiri N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012
Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians. Mutation in brief #965. Online.
Mahajan A et al.
Human Mutation, 2007