Associated Papers
Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.
Borràs N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
40577417 (PubMed )
Supplement: HAE-31-734-s001.pdf
Genetic variants in VWF exon 26 and their implications for type 1 Von Willebrand disease in a Saudi Arabian population.
Alzahrani FM et al.
Open Life Sciences, 2025
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 2020
32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6
Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA.
Borràs N et al.
Haematologica, 2019
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.
Borràs N et al.
Haematologica, 2017
28971901 (PubMed )
Supplement: 2017.168765.BORRAS_SUPPL.pdf
Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS.
Fidalgo T et al.
Thrombosis and Haemostasis, 2016
Genetic mutations in von Willebrand disease identified by DHPLC and DNA sequence analysis.
Kakela JK et al.
Molecular Genetics and Metabolism, 2006
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