Article

A deep exon cryptic splice site promotes aberrant intron retention in a von Willebrand disease patient

2021-11-02

Abstract excerpt

A translationally silent single nucleotide mutation, in exon 44 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 altered secondary structure that sequesters the normal splice donor site. We propose an alternative mechanism: that the mutation introduces a cryptic splic...

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Literature Corpus work: c995fc87-af7b-509c-8b34-7db12ead7359
DOI: 10.1101/2021.11.02.466821

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