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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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| Publicado en: | Ann Clin Transl Neurol |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6562067/ https://ncbi.nlm.nih.gov/pubmed/31211175 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.777 |
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