Cryptic non-canonical splice site activation is part of the mechanism that abolishes multimer organization in the c.2269_2270del von Willebrand factor

We report a new pathogenic mechanism in von Willebrand disease involving the use of a non-canonical splicing site. The proband, carrying the homozygous c.2269_2270del mutation previously classified as a type 3 mutation, showed severely reduced plasma and platelet von Willebrand factor antigen levels...

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Detalles Bibliográficos
Autores principales: Daidone, Viviana, Galletta, Eva, De Marco, Luigi, Casonato, Alessandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ferrata Storti Foundation 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7109749/
https://www.ncbi.nlm.nih.gov/pubmed/31320553
http://dx.doi.org/10.3324/haematol.2019.222679

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7109749/
https://www.ncbi.nlm.nih.gov/pubmed/31320553
http://dx.doi.org/10.3324/haematol.2019.222679

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