A Deep Exon Cryptic Splice Site Promotes Aberrant Intron Retention in a Von Willebrand Disease Patient

A translationally silent single nucleotide mutation in exon 44 (E44) of the von Willebrand factor (VWF) gene is associated with inefficient removal of intron 44 in a von Willebrand disease (VWD) patient. This intron retention (IR) event was previously attributed to reordered E44 secondary structure...

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Detalles Bibliográficos
Autor principal: Conboy, John G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8706089/
https://www.ncbi.nlm.nih.gov/pubmed/34948044
http://dx.doi.org/10.3390/ijms222413248

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8706089/
https://www.ncbi.nlm.nih.gov/pubmed/34948044
http://dx.doi.org/10.3390/ijms222413248

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