Associated Papers
The genetic spectrum of rare bleeding disorders.
Mohsenian S et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study.
Willems SPE et al.
Research and Practice in Thrombosis and Haemostasis, 2024
39076726 (PubMed )
Supplement: mmc2.xlsx › Blad1
Genotypes and phenotypes characterization of 17 Iranian patients with inherited factor X deficiency: identification of a novel mutation: Leu487Phe.
Fallah A et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2022
Analysis of 180 Genetic Variants in a New Interactive FX Variant Database Reveals Novel Insights into FX Deficiency.
Harris VA et al.
Th Open : Companion Journal to Thrombosis and Haemostasis, 2021
Characterization of a Missense Mutation in the Catalytic Domain and a Splicing Mutation of Coagulation Factor X Compound Heterozygous in a Chinese Pedigree.
Feng Y et al.
Genes, 2021
Congenital coagulation factor X deficiency: Genetic analysis of five patients and functional characterization of mutant factor X proteins.
Nagaya S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018
Genome editing of factor X in zebrafish reveals unexpected tolerance of severe defects in the common pathway.
Hu Z et al.
Blood, 2017
Plasma-derived human factor X concentrate for on-demand and perioperative treatment in factor X-deficient patients: pharmacology, pharmacokinetics, efficacy, and safety.
Shapiro A
Expert Opinion on Drug Metabolism & Toxicology, 2017
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.
Oud MM et al.
Cilia, 2016
27069622 (PubMed )
Supplement: 13630_2016_29_MOESM1_ESM.xls › Total_variants
Frequency of the p.Gly262Asp mutation in congenital Factor X deficiency.
Epcacan S et al.
European Journal of Clinical Investigation, 2015
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