Associated Papers
Therapeutic base editing to generate a gain-of-function F9 variant for hemophilia B.
Baatartsogt N et al.
Blood, 2026
F9 missense variant hot spots associated with qualitative protein defects causing hemophilia B.
van Duijl TT et al.
Blood Vessels, Thrombosis & Hemostasis, 2025
Identification of Novel F9 Gene Variants in 143 Vietnamese Patients with Hemophilia B.
Bach KQ et al.
Journal of Blood Medicine, 2025
Noninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage.
Kong L et al.
Prenatal Diagnosis, 2024
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
Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants.
Agrawal N et al.
International Journal of Laboratory Hematology, 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
A prospective surveillance study in haemophilia B patients following a population switch to recombinant factor IX (nonacog gamma).
Dubé E et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
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
Establishing a comprehensive genetic diagnosis strategy for hemophilia B and its application in Chinese population.
Lin XY et al.
International Journal of Laboratory Hematology, 2018
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
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
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