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Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly–Gly mutation causing loss of an Exonic Splicing Enhancer
Tonin, Rodolfo, Catarzi, Serena, Caciotti, Anna, Procopio, Elena, Marini, Carla, Guerrini, Renzo, Morrone, AmeliaLanguage:
english
Journal:
Journal of Neurology
DOI:
10.1007/s00415-018-9084-4
Date:
October, 2018
File:
PDF, 1.57 MB
english, 2018