Urine mRNA to identify a novel pseudoexon causing dystrophinopathy

In muscular dystrophies, identification of pathogenic pseudoexons involves sequencing of the target gene cDNA derived from muscle mRNA. Here we use a urine “liquid biopsy,” droplet digital PCR, and sequencing of PCR products to identify a novel cryptic splice site in DMD intron 67 that causes dystro...

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Detalles Bibliográficos
Autores principales: Antoury, Layal, Hu, Ningyan, Darras, Basil, Wheeler, Thurman M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562067/
https://www.ncbi.nlm.nih.gov/pubmed/31211175
http://dx.doi.org/10.1002/acn3.777

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562067/
https://www.ncbi.nlm.nih.gov/pubmed/31211175
http://dx.doi.org/10.1002/acn3.777

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