Cargando…
Multifaceted pathomolecular mechanism of a VWF large deletion involved in the pathogenesis of severe VWD
An in-frame heterozygous large deletion of exons 4 through 34 of the von Willebrand factor (VWF) gene was identified in a type 3 von Willebrand disease (VWD) index patient (IP), as the only VWF variant. The IP exhibited severe bleeding episodes despite prophylaxis treatment, with a short VWF half-li...
| Autores principales: | , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
American Society of Hematology
2022
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8945295/ https://www.ncbi.nlm.nih.gov/pubmed/34861678 http://dx.doi.org/10.1182/bloodadvances.2021005895 |