Science Links Japan | Endocrine. Interesting case. Thyroid gland. New NIS (sodium-iodine symporter) gene mutation identified in the 2 Spanish elder brother and younger sister cases of iodine concentration failure (ITD) : big deletion + reverse insertion.

TOP > J-EAST > List of Journal Titles (C) > Clinical Endocrinology (2002) > Endocrine. Interesting case. Thyroid gland. New NIS (sodium-iodine symporter) gene mutation identified in the 2 Spanish elder brother and younger sister cases of iodine concentration failure (ITD) : big deletion + reverse insertion.

Endocrine. Interesting case. Thyroid gland. New NIS (sodium-iodine symporter) gene mutation identified in the 2 Spanish elder brother and younger sister cases of iodine concentration failure (ITD) : big deletion + reverse insertion.

Accession number;03A0096383

Title;Endocrine. Interesting case. Thyroid gland. New NIS (sodium-iodine symporter) gene mutation identified in the 2 Spanish elder brother and younger sister cases of iodine concentration failure (ITD) : big deletion + reverse insertion.

Author; KOSUGI SHINJI (Kyoto Univ., Hosp.)

Journal Title;Clinical Endocrinology

Journal Code:Z0648A

ISSN:0045-7167

VOL.50;NO.;PAGE.68-72(2002)

Figure&Table&Reference;FIG.6, REF.2

Pub. Country;Japan

Language;Japanese

Abstract;In the 2 Spanish elder brother and younger sister cases (man born in 1958 and younger sister born in 1964) of iodine concentration failure (ITD), new NIS (sodium-iodine symporter) gene mutation was identified. By the analysis of the NIS gene, the big deletion + reverse insertion mutations were observed. The result of the expression experiment showed that this mutation became a direct cause of the ITD. Though variant NIS protein was synthesized and was accumulated in the cytoplasm, it did not appear appropriately in the cell surface.

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