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

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

BMC Pediatrics 2012, 12:150  doi:10.1186/1471-2431-12-150

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