The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1

The number of cytosine-thymine-guanine (CTG) repeats (‘CTG expansion size’) in the 3′untranslated region (UTR) region of the dystrophia myotonica-protein kinase (DMPK) gene is a hallmark of myotonic dystrophy type 1 (DM1), which has been related to age of disease onset and clinical severity. However...

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Detalles Bibliográficos
Autores principales: Ballester-Lopez, Alfonsina, Linares-Pardo, Ian, Koehorst, Emma, Núñez-Manchón, Judit, Pintos-Morell, Guillem, Coll-Cantí, Jaume, Almendrote, Miriam, Lucente, Giuseppe, Arbex, Andrea, Magaña, Jonathan J., Murillo-Melo, Nadia M., Lucia, Alejandro, Monckton, Darren G., Cumming, Sarah A., Ramos-Fransi, Alba, Martínez-Piñeiro, Alicia, Nogales-Gadea, Gisela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397178/
https://www.ncbi.nlm.nih.gov/pubmed/32645888
http://dx.doi.org/10.3390/genes11070757

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397178/
https://www.ncbi.nlm.nih.gov/pubmed/32645888
http://dx.doi.org/10.3390/genes11070757

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