Associated Papers
Genetic Analysis of Patients with Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Single-Center Observational Study.
Bereczky Z et al.
Genes, 2025
Gene Dosage of F5 c.3481C>T Stop-Codon (p.R1161Ter) Switches the Clinical Phenotype from Severe Thrombosis to Recurrent Haemorrhage: Novel Hypotheses for Readthrough Strategy.
Gemmati D et al.
Genes, 2024
In vitro and ex vivo rescue of a nonsense mutation responsible for severe coagulation factor V deficiency.
Todaro AM et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
Prevalence of rare F5 variants in general population from Bosnia and Herzegovina.
Ašić A et al.
Molecular Biology Reports, 2021
Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.
Gindele R et al.
Life (basel, Switzerland), 2021
33807613 (PubMed )
Supplement: life-11-00202-s001.pdf
Exomes of Ductal Luminal Breast Cancer Patients from Southwest Colombia: Gene Mutational Profile and Related Expression Alterations.
Cortes-Urrea C et al.
Biomolecules, 2020
32365829 (PubMed )
Supplement: biomolecules-10-00698-s001.zip › Article-to-BIOMOLECULES_R1_v4Apr2020 › CortesUrreaetal_R1_Supp_Table_S2_339SNPs.xlsx › Tab_S2_339_SNPs_440_alterations
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
31813827 (PubMed )
Supplement: mmc2.xlsx › SNVs
First description of the molecular and clinical characterization of hereditary factor V deficiency in Saudi Arabia: report of four novel mutations.
Al-Numair NS et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2019
Variants in chondroitin sulfate metabolism genes in thrombotic storm.
Nuytemans K et al.
Thrombosis Research, 2018
A genetic association study of activated partial thromboplastin time in European Americans and African Americans: the ARIC Study.
Weng LC et al.
Human Molecular Genetics, 2015
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