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Article

A novel peculiar mutation in the sodium/iodide symporter gene in spanish siblings with iodide transport defect.

The Journal of clinical endocrinology and metabolism - 1 Aug 2002

Kosugi Shinji, Okamoto Hiroomi, Tamada Aiko, Sanchez-Franco F

Abstract excerpt

Previously, we reported two Spanish siblings with congenital hypothyroidism due to total failure of iodide transport. These were the only cases reported to date who received long-term iodide treatment over 10 yr. We examined the sodium/iodide symporter (NIS) gene of these patients. A large deletion was observed by long and accurate PCR using primers derived from introns 2 and 7 of the NIS gene. PCR-direct...

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Identifiers

PMID: 12161518
DOI: 10.1210/jcem.87.8.8767

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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