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

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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Bibliographic Details
Main Author: John G. Conboy
Format: Article
Language:English
Published: MDPI AG 2021-12-01
Series:International Journal of Molecular Sciences
Subjects:
von Willebrand disease
intron retention
cryptic splice site
pre-mRNA splicing
aberrant splicing
Online Access:https://www.mdpi.com/1422-0067/22/24/13248

Internet

https://www.mdpi.com/1422-0067/22/24/13248

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