Resistance to Thyroid Hormone due to a mutation in thyroid hormone receptor α1 and the α2 variant protein

BACKGROUND: The thyroid hormone receptor alpha gene (THRA) is alternately spliced to generate thyroid receptor alpha1 (TRα1) or a non hormone-binding variant protein (α2), whose function is unknown. Here, we describe the first patients with a mutation in both TRα1 and α2 and compare them to cases of...

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Publicado no:Lancet Diabetes Endocrinol
Main Authors: Moran, Carla, Agostini, Maura, Visser, W. Edward, Schoenmakers, Erik, Schoenmakers, Nadia, Offiah, Amaka C., Poole, Ken, Rajanayagam, Odelia, Lyons, Greta, Halsall, David, Gurnell, Mark, Chrysis, Dionisios, Efthymiadou, Alexandra, Buchanan, Charles, Aylwin, Simon, Chatterjee, Krishna
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5989926/
https://ncbi.nlm.nih.gov/pubmed/24969835
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/S2213-8587(14)70111-1
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