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Article

Recurrent T354P mutation of the Na+/I- symporter in patients with iodide transport defect.

The Journal of clinical endocrinology and metabolism - 1 Aug 1998

Fujiwara H, Tatsumi K, Miki K, Harada T, Okada S, Nose O, Kodama S, Amino N

Abstract excerpt

Iodide transport defect (ITD) is a rare disorder causing congenital hypothyroidism. We previously reported that homozygous T354P mutation in the sodium/iodide symporter (NIS) gene caused ITD. To clarify the prevalence of this mutation, artificial substitution introducing PCR followed by restriction enzyme analysis was developed as a rapid screening method to detect the T354P mutation. Three apparently unrelated...

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Identifiers

PMID: 9709973
DOI: 10.1210/jcem.83.8.5029

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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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Recurrent T354P mutation of the Na+/I- symporter in patients with iodide transport defect.PMID 9709973Read ↗

High prevalence of T354P sodium/iodide symporter gene mutation in Japanese patients with iodide transport defect who have heterogeneous clinical pictures.Semantic proximity Read ↗

A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect.Semantic proximity Read ↗

Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene.Semantic proximity Read ↗

Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism.Semantic proximity Read ↗

Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients.Semantic proximity Read ↗

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

Clinical characteristics and genetics analysis for the ITD of congenital hypothyroidism.Semantic proximity Read ↗

Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodium/iodide symporter gene and review of genotype-phenotype correlations in ITD.Semantic proximity Read ↗

Brief Report: A Novel Sodium/Iodide Symporter Mutation, S356F, Causing Congenital Hypothyroidism.Semantic proximity Read ↗

Iodide transport defect: functional characterization of a novel mutation in the Na+/I- symporter 5'-untranslated region in a patient with congenital hypothyroidism.Semantic proximity Read ↗

Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.Semantic proximity Read ↗

Mutation screening of the sodium iodide symporter gene in a cohort of 105 China patients with congenital hypothyroidism.Semantic proximity Read ↗

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