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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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Detaylı Bibliyografya
Yayımlandı:J Clin Invest
Asıl Yazarlar: Adams, M, Matthews, C, Collingwood, T N, Tone, Y, Beck-Peccoz, P, Chatterjee, K K
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Society for Clinical Investigation 1994
Konular:
Online Erişim: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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