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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Библиографические подробности

Опубликовано в::	J Clin Invest
Главные авторы:	Adams, M, Matthews, C, Collingwood, T N, Tone, Y, Beck-Peccoz, P, Chatterjee, K K
Формат:	Artigo
Язык:	Inglês
Опубликовано:	American Society for Clinical Investigation 1994
Предметы:	Research Article
Online-ссылка:	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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