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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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| Publicat a: | J Clin Endocrinol Metab |
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| Autors principals: | , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Endocrine Society
2015
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| Matèries: | |
| Accés en línia: | 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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