Article
Characterization of a novel mutant human thyroid hormone receptor beta in a family with hereditary thyroid hormone resistance.
Clinical endocrinology - 1 Jan 1993
Sakurai A, Miyamoto T, Hughes I A, DeGroot L J
Abstract excerpt
OBJECTIVE: We wished to determine the abnormality responsible for Generalized Resistance to Thyroid Hormone in a family with this syndrome. DESIGN: Molecular biological studies were performed on a mutant human thyroid hormone receptor beta (hTR beta) cloned from fibroblasts of the patient. PATIENTS: The patient is from a previously reported family with typical features of Generalized Resistance to Thyroid...
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