Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene.

Resistance to thyroid hormone (RTH), with elevated serum free thyroid hormones and nonsuppressed thyrotropin levels, is either relatively asymptomatic, suggesting a generalized disorder (GRTH) or associated with thyrotoxic features, indicating possible selective pituitary resistance (PRTH). 20 GRTH...

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Detalles Bibliográficos
Publicado en:J Clin Invest
Autores principales: Adams, M, Matthews, C, Collingwood, T N, Tone, Y, Beck-Peccoz, P, Chatterjee, K K
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Clinical Investigation 1994
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC296123/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8040303/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117362
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