Associated Papers
The Co-Occurrence of Low-Frequency Pathogenic Variants in TBXA2R Exacerbating the Hemorrhagic Symptoms in Siblings with Hemophilia B.
Shimomura M et al.
Seminars in Thrombosis and Hemostasis, 2026
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
Identification of Novel F9 Gene Variants in 143 Vietnamese Patients with Hemophilia B.
Bach KQ et al.
Journal of Blood Medicine, 2025
Clinical analysis and quality of life survey of hemophilia B patients in the central and western regions of China.
Wang W et al.
Frontiers in Pediatrics, 2024
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 Molecular Basis of FIX Deficiency in Hemophilia B.
Shen G et al.
International Journal of Molecular Sciences, 2022
F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes.
Branchini A et al.
Journal of Thrombosis and Haemostasis : Jth, 2022
Efficacy and safety of subcutaneous prophylaxis with dalcinonacog alfa in adults with haemophilia B.
Mahlangu J et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
Genetic causes of haemophilia in women and girls.
Miller CH et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations.
Huang L et al.
Molecular Genetics & Genomic Medicine, 2020
Characterization of missense mutations in the signal peptide and propeptide of FIX in hemophilia B by a cell-based assay.
Gao W et al.
Blood Advances, 2020
Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.
Katneni UK et al.
Molecular Genetics & Genomic Medicine, 2019
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
High resolution melting for F9 gene mutation analysis in patients with haemophilia B.
Salviato R et al.
Blood Transfusion = Trasfusione Del Sangue, 2019
Mutational Profiles of F8 and F9 in a Cohort of Haemophilia A and Haemophilia B Patients in the Multi-ethnic Malaysian Population.
Zahari M et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2018
Molecular characterization of haemophilia B patients in southern Brazil.
Meireles MR et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2017
Factor IX mutations in hemophilia B patients from Liaoning Province, China.
Cao DH et al.
International Journal of Laboratory Hematology, 2014
Mutation analysis of a cohort of US patients with hemophilia B.
Li T et al.
American Journal of Hematology, 2014
The CDC Hemophilia B mutation project mutation list: a new online resource.
Li T et al.
Molecular Genetics & Genomic Medicine, 2013
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