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

• Main Authors: León-García Gregorio (Author), Santana Alfredo (Author), Villegas-Sepúlveda Nicolás (Author), Pérez-González Concepción (Author), Henrríquez-Esquíroz José M (Author), de León-García Carlota (Author), Wong Carlos (Author), Baeza Isabel (Author)
• Format: Book
• Published: BMC, 2012-09-01T00:00:00Z.
• Subjects: article
• Online Access: 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...