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

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 changes...

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Detalles Bibliográficos
Autores principales: Sacchetto, Claudia, Peretto, Laura, Baralle, Francisco, Maestri, Iva, Tassi, Francesca, Bernardi, Francesco, van de Graaf, Stan F. J., Pagani, Franco, Pinotti, Mirko, Balestra, Dario
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8670272/
https://www.ncbi.nlm.nih.gov/pubmed/34906067
http://dx.doi.org/10.1186/s10020-021-00418-9

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