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dc.contributor.author
Nicola, Juan Pablo  
dc.contributor.author
Reyna Neyra, Andrea  
dc.contributor.author
Saenger, Paul  
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Rodriguez Buritica, David F.  
dc.contributor.author
Gamez Godoy, José David  
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Muzumdar, Radhika  
dc.contributor.author
Amzel, Mario  
dc.contributor.author
Carrasco, Nancy  
dc.date.available
2018-05-24T17:41:14Z  
dc.date.issued
2015-10-01  
dc.identifier.citation
Nicola, Juan Pablo; Reyna Neyra, Andrea; Saenger, Paul; Rodriguez Buritica, David F.; Gamez Godoy, José David; et al.; Sodium/iodide Symporter Mutant V270E causes stunted growth but no cognitive deficiency; Endocrine Society; Journal of Clinical Endocrinology and Metabolism; 100; 10; 1-10-2015; E1353-E1361  
dc.identifier.issn
0021-972X  
dc.identifier.uri
http://hdl.handle.net/11336/46107  
dc.description.abstract
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 which I− accumulation is totally or partially impaired, leading to congenital hypothyroidism. The characterization of NIS mutants has yielded significant insights into the molecular mechanism of NIS.  
dc.format
application/pdf  
dc.language.iso
eng  
dc.publisher
Endocrine Society  
dc.rights
info:eu-repo/semantics/openAccess  
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/  
dc.subject
Iodide Transport Defect  
dc.subject
Congenital Hypothyroidism  
dc.subject
Sodium/Iodide Symporter  
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Plasma Membrane Targeting  
dc.subject.classification
Inmunología  
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Medicina Básica  
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CIENCIAS MÉDICAS Y DE LA SALUD  
dc.title
Sodium/iodide Symporter Mutant V270E causes stunted growth but no cognitive deficiency  
dc.type
info:eu-repo/semantics/article  
dc.type
info:ar-repo/semantics/artículo  
dc.type
info:eu-repo/semantics/publishedVersion  
dc.date.updated
2018-05-22T21:48:07Z  
dc.identifier.eissn
1945-7197  
dc.journal.volume
100  
dc.journal.number
10  
dc.journal.pagination
E1353-E1361  
dc.journal.pais
Estados Unidos  
dc.journal.ciudad
Washington  
dc.description.fil
Fil: Nicola, Juan Pablo. University of Yale. School of Medicine; Estados Unidos. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Córdoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentina  
dc.description.fil
Fil: Reyna Neyra, Andrea. University of Yale. School of Medicine; Estados Unidos  
dc.description.fil
Fil: Saenger, Paul. Winthrop University; Estados Unidos  
dc.description.fil
Fil: Rodriguez Buritica, David F.. Winthrop University; Estados Unidos  
dc.description.fil
Fil: Gamez Godoy, José David. Winthrop University; Estados Unidos  
dc.description.fil
Fil: Muzumdar, Radhika. Albert Einstein College Of Medicine; Estados Unidos  
dc.description.fil
Fil: Amzel, Mario. University Johns Hopkins. Dept.of Chemistry; Estados Unidos  
dc.description.fil
Fil: Carrasco, Nancy. University of Yale. School of Medicine; Estados Unidos  
dc.journal.title
Journal of Clinical Endocrinology and Metabolism  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/jcem/article/100/10/E1353/2835757  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1210/jc.2015-1824  

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