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Analysis of naturally occurring mutations in the human uptake transporter NaCT important for bone and brain development and energy metabolism

The human uptake transporter NaCT is important for human brain development, brain function and energy metabolism and mediates the uptake of citrate and other intermediates of the tricarboxylic acid cycle from blood into neurons and hepatocytes. Mutations in the SLC13A5 gene encoding NaCT are associa...

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Detalles Bibliográficos
Autores principales:	Selch, Stefan, Chafai, Anja, Sticht, Heinrich, Birkenfeld, Andreas L., Fromm, Martin F., König, Jörg
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063891/ https://www.ncbi.nlm.nih.gov/pubmed/30054523 http://dx.doi.org/10.1038/s41598-018-29547-8

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