Associated Papers
Missense and nonsense mutations and inhibitor development in patients with hemophilia A and B.
Karimi F et al.
Journal of Thrombosis and Thrombolysis, 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
The genetic analysis of eight families with hemophilia B in Mongolia: Identification of two novel mutation.
Munkhuu P et al.
Molecular Genetics & Genomic Medicine, 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
F9 mutations causing deletions beyond the serine protease domain confer higher risk for inhibitor development in hemophilia B.
Liu G et al.
Blood, 2023
Factor IX inhibitors in haemophilia B: A report of National Haemophilia Registry in China.
Dou X et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2023
Variant spectrum of F8 and F9 in hemophilia patients from southern China and 26 novel variants.
Li F et al.
Frontiers in Genetics, 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
Generation of an mESC model with a human hemophilia B nonsense mutation via CRISPR/Cas9 technology.
Ma Y et al.
Stem Cell Research & Therapy, 2022
Effects of 14 F9 synonymous codon variants on hemophilia B expression: Alteration of splicing along with protein expression.
Zhang H et al.
Human Mutation, 2022
Generation an induced pluripotent stem cell line SXMUi001-A derived from a hemophilia B patient carries variant F9 c.223C＞T(p.R75X).
Ma Y et al.
Stem Cell Research, 2022
Mutation analysis and characterisation of F9 gene in haemophilia- B population of India.
Kulkarni S et al.
Blood Research, 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
Molecular characterization of hemophilia B patients in Colombia.
Parrado Jara YA et al.
Molecular Genetics & Genomic Medicine, 2020
Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies.
Balestra D et al.
International Journal of Molecular Sciences, 2019
High resolution melting for F9 gene mutation analysis in patients with haemophilia B.
Salviato R et al.
Blood Transfusion = Trasfusione Del Sangue, 2019
Mutation Spectrum and Genotype-Phenotype Analyses in a Pakistani Cohort With Hemophilia B.
Khan MTM et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2018
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
Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations.
Branchini A et al.
Blood, 2017
Combined coagulation factor VIII and factor IX deficiency (CDF8F9) in a patient from Lithuania.
Ivaškevičius V et al.
Hamostaseologie, 2016
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
Hemophilia B: molecular pathogenesis and mutation analysis.
Goodeve AC
Journal of Thrombosis and Haemostasis : Jth, 2015
Risk factors associated with inhibitor development in Chinese patients with haemophilia B.
Zhou J et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015
Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B.
Saini S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015
Mutation analysis of a cohort of US patients with hemophilia B.
Li T et al.
American Journal of Hematology, 2014
Efficient detection of factor IX mutations by denaturing high-performance liquid chromatography in Taiwanese hemophilia B patients, and the identification of two novel mutations.
Lin PC et al.
The Kaohsiung Journal of Medical Sciences, 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
Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B.
Kwon MJ et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008
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
Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients.
Will K et al.
Human Mutation, 1995