Article
An arginine to histidine mutation in codon 315 of the c-erbA beta thyroid hormone receptor in a kindred with generalized resistance to thyroid hormones results in a receptor with significant 3,5,3'-triiodothyronine binding activity.
The Journal of clinical endocrinology and metabolism - 1 May 1992
Cugini C D, Leidy J W, Chertow B S, Bérard J, Bradley W E, Menke J B, Hao E H, Usala S J
Abstract excerpt
Generalized resistance to thyroid hormones results from diverse mutations in the T3-binding domain of the c-erbA beta thyroid hormone receptor, and different kindreds have variable phenotypes. However, the T3-binding affinities of these mutant receptors studied in vitro have all been severely red...
Topics
- Adult
- Base Sequence
- Child
- Child, Preschool
- Codon
- Drug Resistance
- Humans
- Middle Aged
- Molecular Sequence Data
- Mutation
- Proto-Oncogene Proteins
- Receptors, Thyroid Hormone
- Thyroid Hormones
- Triiodothyronine