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Article

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

Biochemical and biophysical research communications - 17 Nov 1997

Pohlenz J, Medeiros-Neto G, Gross J L, Silveiro S P, Knobel M, Refetoff S

Abstract excerpt

A 36 year old man with a large goiter was suspected of having iodide (I-) transport defect based on low thyroidal and salivary gland radioiodide uptake. Thyroid surgery was performed, because thyroid cytology could not exclude a malignancy. Sequencing of the entire Na+/I- symporter (NIS) cDNA derived from thyroidal mRNA revealed a homozygous substitution of the normal cytosine in nucleotide (nt) 1163 with an...

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Identifiers

PMID: 9388506
DOI: 10.1006/bbrc.1997.7594

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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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