Article
A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds.
The Journal of clinical investigation - 1 Jan 1990
Usala S J, Tennyson G E, Bale A E, Lash R W, Gesundheit N, Wondisford F E, Accili D, Hauser P, Weintraub B D
Abstract excerpt
Generalized thyroid hormone resistance (GTHR) is a disorder of thyroid hormone action that we have previously shown to be tightly linked to one of the two thyroid hormone receptor genes, c-erbA beta, in a single kindred, A. We now show that in two other kindreds, B and D, with differing phenotype...
Topics
- Alleles
- Base Sequence
- DNA
- Drug Resistance
- Female
- Genetic Linkage
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Nucleic Acid Hybridization
- Pedigree
- Phenotype
- Protein-Tyrosine Kinases