The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation

od León-García, Gregorio, Santana, Alfredo, Villegas-Sepúlveda, Nicolás, Pérez-González, Concepción, Henrríquez-Esquíroz, José M, de León-García, Carlota, Wong, Carlos, Baeza, Isabel
Izdano 2012