A carregar...

Activation of a cryptic 5′ splice site reverses the impact of pathogenic splice site mutations in the spinal muscular atrophy gene

Spinal muscular atrophy (SMA) is caused by deletions or mutations of the Survival Motor Neuron 1 (SMN1) gene coupled with predominant skipping of SMN2 exon 7. The only approved SMA treatment is an antisense oligonucleotide that targets the intronic splicing silencer N1 (ISS-N1), located downstream o...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Nucleic Acids Res
Main Authors: Singh, Natalia N., Del Rio-Malewski, José Bruno, Luo, Diou, Ottesen, Eric W., Howell, Matthew D., Singh, Ravindra N.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5716214/
https://ncbi.nlm.nih.gov/pubmed/28981879
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkx824
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!