Associated Papers
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
Delivery of Cas9-guided ABE8e into stem cells using poly(l-lysine) polypeptides for correction of the hemophilia-associated FIX missense mutation.
Rong L et al.
Biochemical and Biophysical Research Communications, 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
Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations.
Huang L et al.
Molecular Genetics & Genomic Medicine, 2020
A candidate activation pathway for coagulation factor VII.
Misenheimer TM et al.
The Biochemical Journal, 2019
Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.
Katneni UK et al.
Molecular Genetics & Genomic Medicine, 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
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
A genetic analysis of 23 Chinese patients with hemophilia B.
Wang QY et al.
Scientific Reports, 2016
Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations.
Guo ZP et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2014
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
Accurate, high-throughput "snapshot" detection of hMLH1 mutations by two-dimensional DNA electrophoresis.
Smith WM et al.
Genetic Testing, 1998