Article
The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation.
BMC pediatrics - 19 Sept 2012
León-García Gregorio, Santana Alfredo, Villegas-Sepúlveda Nicolás, Pérez-González Concepción, Henrríquez-Esquíroz José M, de León-García Carlota, Wong Carlos, Baeza Isabel
Abstract excerpt
BACKGROUND: The ATP7A gene encodes the ATP7A protein, which is a trans-Golgi network copper transporter expressed in the brain and other organs. Mutations in this gene cause disorders of copper metabolism, such as Menkes disease. Here we describe the novel and unusual mutation (p.T1048I) in the ATP7A gene of a child with Menkes disease. The mutation affects a conserved DKTGT1048 phosphorylation motif that is...
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