Article
Detection of a new de novo mutation at codon 251 of exon 8 of thyroid hormone receptor beta gene in an Italian kindred with resistance to thyroid hormone.
Journal of endocrinological investigation - 1 Apr 1998
Macchia E, Agostini M, Sarkissian G, Giorgilli G, Canale D, Scartabelli G, Margotat A, Torresani J, Pinchera A
Abstract excerpt
Resistance to thyroid hormone (RTH) is almost invariably associated with mutations of the thyroid hormone (TH) receptor beta (hTR beta) gene and is inherited as an autosomal dominant disease. Mutations of hTR beta identified in patients affected by RTH cluster generally at two spots of the ligand binding domain. We investigated whether an Italian kindred with RTH had a mutation in the thyroid hormone (TH)...
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