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

por Corrales, Eyleen, Vásquez, Melissa, Zhang, Baili, Santamaría-Ulloa, Carolina, Cuenca, Patricia, Krahe, Ralf, Monckton, Darren G., Morales, Fernando
Publicado 2019

Functional and Structural Characterization of ClC-1 and Na(v)1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients

por Brenes, Oscar, Barbieri, Raffaella, Vásquez, Melissa, Vindas-Smith, Rebeca, Roig, Jeffrey, Romero, Adarli, del Valle, Gerardo, Bermúdez-Guzmán, Luis, Bertelli, Sara, Pusch, Michael, Morales, Fernando
Publicado 2021