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Somatic Mosaicism in Menkes Disease Suggests Choroid Plexus-mediated Copper Transport to the Developing Brain

The primary mechanism of copper transport to the brain is unknown, although this process is drastically impaired in Menkes disease, an X-linked neurodevelopmental disorder caused by mutations in an evolutionarily conserved copper transporter, ATP7A. Potential central nervous system entry routes for...

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Detalhes bibliográficos
Main Authors: Donsante, Anthony, Johnson, Paul, Jansen, Laura A., Kaler, Stephen G.
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3117432/
https://ncbi.nlm.nih.gov/pubmed/20799318
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33632
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