Article
Deoxyribonucleic acid analyses of five families with familial inherited thyroid stimulating hormone deficiency.
The Journal of clinical endocrinology and metabolism - 1 Oct 1990
Hayashizaki Y, Hiraoka Y, Tatsumi K, Hashimoto T, Furuyama J, Miyai K, Nishijo K, Matsuura M, Kohno H, Labbe A
Abstract excerpt
Five families with familial inherited TSH deficiency, reported to date, were examined for the TSH beta gene at the nucleotide level. The first family carries a single base substitution in the 29th codon which lies in the so-called CAGYC region; GCA (glycine) is replaced by AGA (arginine). This su...
Topics
- Amino Acid Sequence
- Base Sequence
- Codon
- Consanguinity
- Female
- Glycine
- Humans
- Japan
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymorphism, Genetic
- RNA, Messenger
- Thyroid Diseases
- Thyrotropin