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

• Hlavní autoři: León-García Gregorio (Autor), Santana Alfredo (Autor), Villegas-Sepúlveda Nicolás (Autor), Pérez-González Concepción (Autor), Henrríquez-Esquíroz José M (Autor), de León-García Carlota (Autor), Wong Carlos (Autor), Baeza Isabel (Autor)
• Médium: Kniha
• Vydáno: BMC, 2012-09-01T00:00:00Z.
• Témata: article
• On-line přístup: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>The <it>ATP7A</it> 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 dis...