Article
Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyroid hormone.
The Journal of clinical investigation - 1 May 1993
Mixson A J, Hauser P, Tennyson G, Renault J C, Bodenner D L, Weintraub B D
Abstract excerpt
Thyroid hormone resistance (THR) is primarily an autosomal dominant inherited disease characterized by resistance of pituitary and peripheral tissues to the action of thyroid hormone. We investigated whether the heterogeneous phenotypic features that occur not only among kindreds but also within...
Topics
- Adolescent
- Alleles
- Base Sequence
- Body Height
- Child
- DNA
- Drug Resistance
- Female
- Fibroblasts
- Genes, Dominant
- Growth Disorders
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Pedigree
- Plasmids