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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en: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: 2014
Assuntos:
Article
Acceso en liña: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
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares