Associated Papers
Genome-wide identification of loci associated with plasma coagulation factor IX activity.
Han J et al.
Journal of Thrombosis and Haemostasis : Jth, 2026
F9 missense variant hot spots associated with qualitative protein defects causing hemophilia B.
van Duijl TT et al.
Blood Vessels, Thrombosis & Hemostasis, 2025
Multipopulation GWAS for venous thromboembolism identifies novel loci followed by experimental validation in zebrafish.
Wolford BN et al.
Blood Advances, 2025
Genetic variant detection in a South African haemophilia B population.
Bester C et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2024
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
Mutation analysis and characterisation of F9 gene in haemophilia- B population of India.
Kulkarni S et al.
Blood Research, 2021
Molecular characterization of hemophilia B patients in Colombia.
Parrado Jara YA 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
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 Analysis of Hemophilia B in Russia: Molecular-Genetic Study].
Surin VL et al.
Genetika, 2016
Hemophilia B: molecular pathogenesis and mutation analysis.
Goodeve AC
Journal of Thrombosis and Haemostasis : Jth, 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
An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation.
Preeprem T et al.
Biodata Mining, 2013
New gene variants associated with venous thrombosis: a replication study in White and Black Americans.
Austin H et al.
Journal of Thrombosis and Haemostasis : Jth, 2011
Genotype Hemophilia Screening Program Identified 2 Novel Variants Including a Novel Variant (c.5816-2A > G) Causing a Pathogenic Variant of the Factor 8 Gene.
Owaidah T et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 0