Sodium/Iodide Symporter Mutant V270E Causes Stunted Growth but No Cognitive Deficiency

CONTEXT: Iodide (I(−)), an essential constituent of the thyroid hormones, is actively accumulated in the thyroid by the Na(+)/I(−) symporter (NIS), a key plasma membrane protein encoded by the slc5a5 gene. Mutations in slc5a5 cause I(−) transport defects (ITDs), autosomal-recessive disorders in whic...

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Bibliografiset tiedot
Julkaisussa:J Clin Endocrinol Metab
Päätekijät: Nicola, Juan Pablo, Reyna-Neyra, Andrea, Saenger, Paul, Rodriguez-Buritica, David F., Gamez Godoy, José David, Muzumdar, Radhika, Amzel, L. Mario, Carrasco, Nancy
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Endocrine Society 2015
Aiheet:
JCEM Online: Advances in Genetics
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4596044/
https://ncbi.nlm.nih.gov/pubmed/26204134
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2015-1824
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