Article
A point mutation of the T3 receptor beta 1 gene in a kindred of generalized resistance to thyroid hormone.
Molecular and cellular endocrinology - 1 Apr 1992
Sasaki S, Nakamura H, Tagami T, Miyoshi Y, Tanaka K, Imura H
Abstract excerpt
Mutations of the thyroid hormone receptor (TR) beta 1 gene have recently been detected in several unrelated families with generalized resistance to thyroid hormone (GRTH). We now report a novel point mutation in the TR beta 1 gene in a case of a Korean-Japanese kindred. The intracellular localiza...
Topics
- Adolescent
- Amino Acid Sequence
- Antibodies
- Base Sequence
- Binding Sites
- Cells, Cultured
- Child
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Precipitin Tests
- Receptors, Thyroid Hormone
- Thyroid Hormones
- Transcription, Genetic
- Triiodothyronine