Associated Papers
Evaluation of discrepancy between clot-based and chromogenic factor IX coagulation assays in non-severe hemophilia B patients and identification of the causing mutations.
Mahdavimand M et al.
Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2025
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
Origin of pathogenic variant and mosaicism in families with a sporadic case of haemophilia B.
Mårtensson A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2024
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
The Molecular Basis of FIX Deficiency in Hemophilia B.
Shen G et al.
International Journal of Molecular Sciences, 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
Molecular study of a large cohort of 109 haemophilia patients from Cuba using a gene panel with next generation sequencing-based technology.
Borràs N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2022
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
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
Genetic causes of haemophilia in women and girls.
Miller CH et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
The Clinical Genetics of Hemophilia B (Factor IX Deficiency).
Miller CH
The Application of Clinical Genetics, 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
High resolution melting for F9 gene mutation analysis in patients with haemophilia B.
Salviato R et al.
Blood Transfusion = Trasfusione Del Sangue, 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
Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations.
Branchini A et al.
Blood, 2017
The CDC Hemophilia B mutation project mutation list: a new online resource.
Li T et al.
Molecular Genetics & Genomic Medicine, 2013
[FⅨ gene all exons sequencing technology in hemophilia B gene carriers detection and the application of prenatal gene diagnosis].
Xiao X et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2013
Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations.
Pinotti M et al.
Human Mutation, 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