Associated Papers
Exploring gene editing as a potential therapeutic strategy for hemophilia.
Kumarasamy N et al.
Frontiers in Bioengineering and Biotechnology, 2026
Missense and nonsense mutations and inhibitor development in patients with hemophilia A and B.
Karimi F et al.
Journal of Thrombosis and Thrombolysis, 2025
Identification of Novel F9 Gene Variants in 143 Vietnamese Patients with Hemophilia B.
Bach KQ et al.
Journal of Blood Medicine, 2025
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
Factor IX antibodies and tolerance in hemophilia B in the Nordic countries - The impact of F9 variants and complications.
Kihlberg K et al.
Thrombosis Research, 2022
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
Mutation analysis and characterisation of F9 gene in haemophilia- B population of India.
Kulkarni S et al.
Blood Research, 2021
Genetic causes of haemophilia in women and girls.
Miller CH et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.
Preisler B et al.
Journal of Clinical Medicine, 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
Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.
Katneni UK et al.
Molecular Genetics & Genomic Medicine, 2019
High resolution melting for F9 gene mutation analysis in patients with haemophilia B.
Salviato R et al.
Blood Transfusion = Trasfusione Del Sangue, 2019
Genetic Correction and Hepatic Differentiation of Hemophilia B-specific Human Induced Pluripotent Stem Cells.
He Q et al.
Chinese Medical Sciences Journal = Chung-kuo I Hsueh K'o Hsueh Tsa Chih, 2017
The State of Skewed X Chromosome Inactivation is Retained in the Induced Pluripotent Stem Cells from a Female with Hemophilia B.
Lyu C et al.
Stem Cells and Development, 2017
Multiplex ligation-dependent probe amplification as first mutation screening for large deletions and duplications in haemophilia.
Belvini D et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2017
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
Lupus anticoagulants associated inhibitor against factor IX in a young patient with haemophilia B.
Barnbrock A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016
A genetic analysis of 23 Chinese patients with hemophilia B.
Wang QY et al.
Scientific Reports, 2016
Factor IX mutations in hemophilia B patients from Liaoning Province, China.
Cao DH et al.
International Journal of Laboratory Hematology, 2014
Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.
Köker MY et al.
The Journal of Allergy and Clinical Immunology, 2013
The CDC Hemophilia B mutation project mutation list: a new online resource.
Li T et al.
Molecular Genetics & Genomic Medicine, 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
Successful treatment of an injury bleeding on a patient suffering from mild von Willebrand's disease and predisposition to allergic diseases, with recombinant factor VIIA.
Alesci S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2011
Identification of novel and recurrent mutations in Tunisian haemophilia B patients.
Elmahmoudi H et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2011
Rapid genetic analysis of x-linked chronic granulomatous disease by high-resolution melting.
Hill HR et al.
The Journal of Molecular Diagnostics : Jmd, 2010
The human homologue of unc-93 maps to chromosome 6q27 - characterisation and analysis in sporadic epithelial ovarian cancer.
Liu Y et al.
Bmc Genetics, 2002