Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing

Autor: Vega, Ana I, Medrano, Celia, Navarrete, Rosa, Desviat, Lourdes R, Merinero, Begoña, Rodríguez-Pombo, Pilar, Vitoria, Isidro, Ugarte, Magdalena, Pérez-Cerdá, Celia, Pérez, Belen
Zdroj: In Genetics in Medicine October 2016 18(10):1037-1043
Databáze: ScienceDirect