Disrupted minor intron splicing is prevalent in Mendelian disorders

ConclusionThese findings highlight that disrupted minor intron splicing has a broader impact on human diseases than previously appreciated. The hope is that this knowledge will aid in the development of therapeutic strategies that incorporate the minor intron splicing pathway.

Source: Molecular Genetics & Genomic Medicine - June 22, 2020 Category: Genetics & Stem Cells Authors: Anouk M. Olthof, Jeffrey S. Rasmussen, Philippe M. Campeau, Rahul N. Kanadia Tags: ORIGINAL ARTICLE Source Type: research