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Article

Failure of membrane targeting causes the functional defect of two mutant sodium iodide symporters.

The Journal of clinical endocrinology and metabolism - 1 Jul 2000

Pohlenz J, Duprez L, Weiss R E, Vassart G, Refetoff S, Costagliola S

Abstract excerpt

Molecular cloning of the sodium/iodide symporter (NIS) allowed identification of NIS gene mutations in patients with iodide trapping defect. Whereas various mutant human (h) NIS molecules display loss of function when expressed by transfection in mammalian cells, the precise mechanism(s) responsible for the functional abnormality of these proteins remains unknown. With the aim to explore these mechanisms in three...

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Identifiers

PMID: 10902780
DOI: 10.1210/jcem.85.7.6700

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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