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

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 ATP7...

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Autores principales: León-García, Gregorio, Santana, Alfredo, Villegas-Sepúlveda, Nicolás, Pérez-González, Concepción, Henrríquez-Esquíroz, José M, de León-García, Carlota, Wong, Carlos, Baeza, Isabel
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2012
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3489546/
https://ncbi.nlm.nih.gov/pubmed/22992316
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2431-12-150
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