Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein-Reference-Cited by-同舟云学术

Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein

Published:2003-09-18 Issue:4 Volume:59 Page:500-506
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:

Author:

Tonacchera Massimo,Agretti Patrizia,De Marco Giuseppina,Elisei Rossella,Perri Anna,Ambrogini Elena,De Servi Melissa,Ceccarelli Claudia,Viacava Paolo,Refetoff Samuel,Panunzi Claudio,Bitti Maria Luisa Manca,Vitti Paolo,Chiovato Luca,Pinchera Aldo

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2265.2003.01877.x/fullpdf

Reference25 articles.

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3. Congenital hypothyroidism caused by a mutation in the Na+I− symporter;Fujiwara;Nature Genetics,1997

4. Recurrent T354P mutation of the Na+/I− symporter in patients with iodide transport defects;Fujiwara;Journal of Clinical Endocrinology and Metabolism,1998

5. A novel V59E missense mutation in the sodium iodide symporter gene in a family with iodide transport defect;Fujiwara;Thyroid,2000

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1. Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant Leading to Dyshormonogenic Congenital Hypothyroidism;Frontiers in Endocrinology;2022-05-04

2. Novel Compound Heterozygous Pathogenic Mutations of SLC5A5 in a Chinese Patient With Congenital Hypothyroidism;Frontiers in Endocrinology;2021-03-19

3. Congenital Hypothyroidism;Endocrinology;2018

4. Congenital Hypothyroidism;Endocrinology;2018

5. Iodide handling disorders (NIS, TPO, TG, IYD);Best Practice & Research Clinical Endocrinology & Metabolism;2017-03