OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies

• Main Authors: Claudia Sacchetto (Author), Laura Peretto (Author), Francisco Baralle (Author), Iva Maestri (Author), Francesca Tassi (Author), Francesco Bernardi (Author), Stan F. J. van de Graaf (Author), Franco Pagani (Author), Mirko Pinotti (Author), Dario Balestra (Author)
• Format: Book
• Published: BMC, 2021-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Aberrant splicing is a common outcome in the presence of exonic or intronic variants that might hamper the intricate network of interactions defining an exon in a specific gene context. Therefore, the evaluation of the functional, and potentially pathological, role of nucleotide...