An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A

An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A

The exon recognition and removal of introns (splicing) from pre-mRNA is a crucial step in the gene expression flow. The process is very complex and therefore susceptible to derangements. Not surprisingly, a significant and still underestimated proportion of disease-causing mutations affects splicing...

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Bibliographic Details
Main Authors: Dario Balestra, Iva Maestri, Alessio Branchini, Mattia Ferrarese, Francesco Bernardi, Mirko Pinotti
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-10-01
Series:Frontiers in Genetics
Subjects:
RNA splicing
splicing mutations
human disease
ExSpeU1
Haemophilia A
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00974/full

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