New Insights into Thyroglobulin Pathophysiology Revealed by the Study of a Family with Congenital Goiter

Context: Thyroglobulin (TG) gene mutations cause congenital hypothyroidism (CH) with goiter. A founder effect has been proposed for some frequent mutations. Mutated proteins have a defect in intracellular transport causing intracellular retention with ultrastructural changes that resemble an endopla...

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Main Authors: Peteiro-Gonzalez, D., Lee, J., Rodriguez-Fontan, J., Castro-Piedras, I., Cameselle-Teijeiro, J., Beiras, A., Bravo, S. B., Alvarez, C. V., Hardy, D. M., Targovnik, H. M., Arvan, P., Lado-Abeal, J.
Format: Artigo
Sprog:Inglês
Udgivet: The Endocrine Society 2010
Fag:
Brief Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2928901/
https://ncbi.nlm.nih.gov/pubmed/20410234
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2009-2109
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