Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients

Autor: Jędrzejowska, Maria, Gos, Monika, Zimowski, Janusz G., Kostera-Pruszczyk, Anna, Ryniewicz, Barbara, Hausmanowa-Petrusewicz, Irena
Zdroj: In Neuromuscular Disorders July 2014 24(7):617-623
Databáze: ScienceDirect