Article
Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance.
The Journal of clinical endocrinology and metabolism - 1 Apr 1992
Takeda K, Weiss R E, Refetoff S
Abstract excerpt
Generalized resistance to thyroid hormone (GRTH) is an inherited syndrome of reduced tissue responsiveness to thyroid hormone. Point mutations in the human thyroid hormone receptor-beta (hTR beta) gene of these patients, causing single amino acid substitutions, appear be different in unrelated in...
Topics
- Base Sequence
- Chromosome Mapping
- DNA
- Drug Resistance
- Electrophoresis, Polyacrylamide Gel
- Gene Amplification
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Receptors, Thyroid Hormone
- Syndrome
- Thyroid Diseases
- Thyroid Hormones