An Overview of Alternative Splicing Defects Implicated in Myotonic Dystrophy Type I

Myotonic dystrophy type I (DM1) is the most common form of adult muscular dystrophy, caused by expansion of a CTG triplet repeat in the 3′ untranslated region (3′UTR) of the myotonic dystrophy protein kinase (DMPK) gene. The pathological CTG repeats result in protein trapping by expanded transcripts...

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Detalles Bibliográficos
Autores principales: López-Martínez, Andrea, Soblechero-Martín, Patricia, de-la-Puente-Ovejero, Laura, Nogales-Gadea, Gisela, Arechavala-Gomeza, Virginia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7564762/
https://www.ncbi.nlm.nih.gov/pubmed/32971903
http://dx.doi.org/10.3390/genes11091109

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