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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Dettagli Bibliografici
Pubblicato in:J Clin Invest
Autori principali: Adams, M, Matthews, C, Collingwood, T N, Tone, Y, Beck-Peccoz, P, Chatterjee, K K
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Clinical Investigation 1994
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Research Article
Accesso online: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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