Cargando…
Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy
Duchenne Muscular Dystrophy (DMD) is a lethal progressive muscle-wasting disease. New treatment strategies relying on DMD gene exon-skipping therapy have recently been approved and about 30% of patients could be amenable to exon 51, 53 or 45 skipping. We evaluated the spectrum of deletions reported...
| Autores principales: | , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2021
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7862591/ https://www.ncbi.nlm.nih.gov/pubmed/33542429 http://dx.doi.org/10.1038/s41598-021-82725-z |