Article
Resistance to thyroid hormone in subjects from two unrelated families is associated with a point mutation in the thyroid hormone receptor beta gene resulting in the replacement of the normal proline 453 with serine.
Thyroid : official journal of the American Thyroid Association - 1 Jan 1994
Refetoff S, Weiss R E, Wing J R, Sarne D, Chyna B, Hayashi Y
Abstract excerpt
Resistance to thyroid hormone (RTH) is a condition of impaired tissue responsiveness to thyroid hormone characterized by elevated free thyroid hormone levels in serum accompanied by nonsuppressed TSH. RTH has been associated with mutations in the thyroid hormone receptor (TR) beta gene. We report...
Topics
- Adult
- Base Sequence
- DNA
- Genotype
- Humans
- Male
- Molecular Sequence Data
- Pedigree
- Phenotype
- Point Mutation
- Proline
- Receptors, Thyroid Hormone
- Serine
- Thyroid Function Tests
- Thyroid Hormone Resistance Syndrome