Resistance to Thyroid Hormone: Probable De Novo Mutation (P453S) in the Receptor Beta Gene - Original Article

Abstract Resistance to thyroid hormone (RTH) is an inherited syndrome of reduced sensitivity to thyroid hormone (TH), usually due to mutations in the thyroid hormone receptor (TR) b gene. We studied a Turkish family whose proband, a 19-year-old male, presented with diffuse goiter, nervousness, and...

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Hlavní autoři:	Banu Kale Köroğlu, Sunee Mamanasiry, Adem Küçük, Mehmet Numan Tamer, Ramazan Yılmaz, Samuel Refetoff
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Society of Endocrinology and Metabolism of Turkey 2009-09-01
Edice:	Endocrinology Research and Practice
Témata:	Resistance to thyroid hormone thyroid hormone receptor beta mutation
On-line přístup:	https://www.endocrinolrespract.org/index.php/pub/article/view/510
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