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

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

<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...

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Bibliographic Details
Main Authors: León-García Gregorio, Santana Alfredo, Villegas-Sepúlveda Nicolás, Pérez-González Concepción, Henrríquez-Esquíroz José M, de León-García Carlota, Wong Carlos, Baeza Isabel
Format: Article
Language:English
Published: BMC 2012-09-01
Series:BMC Pediatrics
Subjects:
ATP7A
Menkes disease
Copper transporter
Cu-His treatment
Online Access:http://www.biomedcentral.com/1471-2431/12/150

Internet

http://www.biomedcentral.com/1471-2431/12/150

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