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A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients

Morales Montero, Fernando; Vásquez Cerdas, Melissa; Santamaría Ulloa, Carolina; Cuenca Berger, Patricia; Corrales Acuña, Eyleen Vanessa; Monckton, Darren G. (2016-04)

Somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 is age-dependent, tissuespecific and expansion-biased, contributing toward the tissue-specificity and progressive nature of the symptoms. Previously, ...