Article
Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-beta receptors?
The Journal of clinical endocrinology and metabolism - 1 Nov 1995
Hayashi Y, Weiss R E, Sarne D H, Yen P M, Sunthornthepvarakul T, Marcocci C, Chin W W, Refetoff S
Abstract excerpt
Resistance to thyroid hormone (RTH), a syndrome characterized by variable tissue hyposensitivity to thyroid hormone, is linked to mutations in the thyroid hormone receptor-beta (TR beta) gene. The purpose of this study was to determine whether the clinical phenotypes of RTH can be translated in terms of functional impairment of the corresponding mutant TR beta. Data from 124 subjects with RTH representing 18...
Topics
- Adolescent
- Adult
- Base Sequence
- Binding, Competitive
- Child
- Child, Preschool
- Female
- Humans
- Male
- Middle Aged
- Molecular Sequence Data