Article
A new point mutation in the 3,5,3'-triiodothyronine-binding domain of the c-erbA beta thyroid hormone receptor is tightly linked to generalized thyroid hormone resistance.
The Journal of clinical endocrinology and metabolism - 1 Jan 1991
Usala S J, Menke J B, Watson T L, Bérard W E, Bradley C, Bale A E, Lash R W, Weintraub B D
Abstract excerpt
Two different mutations in the c-erbA beta thyroid hormone receptor have recently been reported as genetic abnormalities responsible for the syndrome of generalized thyroid hormone resistance (GTHR). We have now found in a third kindred, D, in which GTHR is inherited as a dominant disease, a new point mutation in the T3-binding domain of c-erbA beta. A guanine to cytosine base substitution at nucleotide position...
Topics
- Base Sequence
- Binding Sites
- Cytosine
- Deoxyribonucleases, Type II Site-Specific
- Drug Resistance
- Endocrine System Diseases
- Female
- Humans
- Lod Score
- Male