Article
Identification and characterization of a novel de novo mutation (L346V) in the thyroid hormone receptor beta gene in a family with generalized thyroid hormone resistance.
European journal of endocrinology - 1 Oct 1997
Macchia E, Gurnell M, Agostini M, Giorgilli G, Marcocci C, Valenti T M, Martino E, Chatterjee K K, Pinchera A
Abstract excerpt
We have investigated an Italian family with generalized resistance to thyroid hormone (RTH), consisting of two individuals with elevated serum thyroid hormones (TH) and a non-suppressed TSH, together with unaffected family members, for a mutation in the thyroid hormone receptor beta gene (hTR beta). We have identified a single nucleotide substitution (1321 CTT to GTT) corresponding to a leucine to valine...
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