Associated Papers
Multimodal mechanisms of pathogenic variants in the signal peptide of FIX leading to hemophilia B.
Gao M et al.
Blood Advances, 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
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
Genetic and Bioinformatic Strategies to Improve Diagnosis in Three Inherited Bleeding Disorders in Bogotá, Colombia.
Lago J et al.
Genes, 2021
Defining the molecular pathology and consequent phenotypes in Egyptian HB patients.
El-Kamah GY et al.
Journal, Genetic Engineering & Biotechnology, 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
Identification of candidate nonsense mutations of FVIII for ribosomal readthrough therapy.
Liu Z et al.
Haematologica, 2019
High resolution melting for F9 gene mutation analysis in patients with haemophilia B.
Salviato R et al.
Blood Transfusion = Trasfusione Del Sangue, 2019
The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation.
Pignani S et al.
Journal of Thrombosis and Haemostasis : Jth, 2018
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
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
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
Bioinformatics analysis of thousands of TCGA tumors to determine the involvement of epigenetic regulators in human cancer.
Gnad F et al.
Bmc Genomics, 2015
Skewed X chromosome inactivation in fraternal female twins results in moderately severe and mild haemophilia B.
Okumura K et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008