Analysis of mutational dynamics at the DMPK (CTG)(n) locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1

Genotype-to-phenotype correlation studies in myotonic dystrophy type 1 (DM1) have been confounded by the age-dependent, tissue-specific and expansion-biased features of somatic mosaicism of the expanded CTG repeat. Previously, we showed that by controlling for the confounding effects of somatic inst...

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Detalles Bibliográficos
Autores principales: Corrales, Eyleen, Vásquez, Melissa, Zhang, Baili, Santamaría-Ulloa, Carolina, Cuenca, Patricia, Krahe, Ralf, Monckton, Darren G., Morales, Fernando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497304/
https://www.ncbi.nlm.nih.gov/pubmed/31048891
http://dx.doi.org/10.1371/journal.pone.0216407

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497304/
https://www.ncbi.nlm.nih.gov/pubmed/31048891
http://dx.doi.org/10.1371/journal.pone.0216407

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