Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer.

Name: Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer.
Author: Tonin, Rodolfo

Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer. — المؤلف: Tonin, Rodolfo — Journal of neurology 20190507

المؤلف: Tonin, Rodolfo
النشر: Journal of neurology 20190507
الوصف: 92-101 p.
الموضوعات: Adolescent؛ Brain؛ Drug Resistant Epilepsy؛ Exons؛ Female؛ Fibroblasts؛ Gaucher Disease؛ Glucosylceramidase