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
Variants p.Pro2063Ser and p.Arg324* co-segregate in type 3 von Willebrand disease patients from Southern Brazil.
Ornaghi AP et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
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
Clinical and laboratory phenotype variability in type 2M von Willebrand disease.
Doruelo AL et al.
Journal of Thrombosis and Haemostasis : Jth, 2017
Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer.
Wen H et al.
Bmc Cancer, 2014
24969172 (PubMed )
Supplement: 1471-2407-14-470-S2.xlsx › Proband-specific_variants
VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population.
Bellissimo DB et al.
Blood, 2012
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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