The T1048I mutation in <it>ATP7A</it> gene causes an unusual Menkes disease presentation

by León-García Gregorio, Santana Alfredo, Villegas-Sepúlveda Nicolás, Pérez-González Concepción, Henrríquez-Esquíroz José M, de León-García Carlota, Wong Carlos, Baeza Isabel
Published 2012-09-01