A Homozygous Deep Intronic Variant Causes Von Willebrand Factor Deficiency and Lack of Endothelial-Specific Secretory Organelles, Weibel–Palade Bodies

A type 3 von Willebrand disease (VWD) index patient (IP) remains mutation-negative after completion of the conventional diagnostic analysis, including multiplex ligation-dependent probe amplification and sequencing of the promoter, exons, and flanking intronic regions of the VWF gene (VWF). In this...

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Detalles Bibliográficos
Autores principales: Yadegari, Hamideh, Jamil, Muhammad Ahmer, Marquardt, Natascha, Oldenburg, Johannes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8950443/
https://www.ncbi.nlm.nih.gov/pubmed/35328514
http://dx.doi.org/10.3390/ijms23063095

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8950443/
https://www.ncbi.nlm.nih.gov/pubmed/35328514
http://dx.doi.org/10.3390/ijms23063095

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