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.

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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Autori principali: Eyleen Corrales, Melissa Vásquez, Baili Zhang, Carolina Santamaría-Ulloa, Patricia Cuenca, Ralf Krahe, Darren G Monckton, Fernando Morales
Natura: Articolo
Lingua:English
Pubblicazione: Public Library of Science (PLoS) 2019-01-01
Serie:PLoS ONE
Accesso online:https://doi.org/10.1371/journal.pone.0216407

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https://doi.org/10.1371/journal.pone.0216407

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