Mutations of CpG dinucleotides located in the triiodothyronine (T3)-binding domain of the thyroid hormone receptor (TR) beta gene that appears to be devoid of natural mutations may not be detected because they are unlikely to produce the clinical phenotype of resistance to thyroid hormone.

Thyroid hormone receptor (TR) beta gene mutations identified in patients with resistance to thyroid hormone (RTH) revealed two clusters ("hot" areas) of mutations (RTHmut) in the triiodothyronine (T3)-binding domain. Furthermore, 45% of RTHmuts and 90% of recurring mutations are located in...

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Pubblicato in:J Clin Invest
Autori principali: Hayashi, Y, Sunthornthepvarakul, T, Refetoff, S
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/PMC296137/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8040316/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117376
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