Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3

Autor: La Serna-Infantes, Jorge, Pastor, Miguel Chávez, Trubnykova, Milana, Velásquez, Félix Chavesta, Sotomayor, Flor Vásquez, Barriga, Hugo Abarca
Zdroj: In European Journal of Medical Genetics July 2018 61(7):388-392
Databáze: ScienceDirect