Article
Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene.
The Journal of clinical endocrinology and metabolism - 1 Jan 1992
Takeda K, Sakurai A, DeGroot L J, Refetoff S
Abstract excerpt
Generalized resistance to thyroid hormone is a syndrome of reduced responsiveness of target tissues to thyroid hormone. The determination of amino acid sequences of the human thyroid receptor-beta (hTR beta), deduced from cDNA sequencing, has enabled evaluation of the genetic basis for this syndrome. Distinct point mutations in the ligand-binding domain of hTR beta have been identified in affected members of...
Topics
- Amino Acid Sequence
- Blotting, Southern
- Chromosome Deletion
- DNA
- Drug Resistance
- Exons
- Genes, Recessive
- Genome
- Humans
- Molecular Sequence Data
- Mutation