Article
Thyroxine-binding globulin variant (TBG-Kumamoto): identification of a point mutation and genotype analysis of its family.
Endocrinologia japonica - 1 Dec 1992
Shirotani T, Kishikawa H, Wake N, Miyamura N, Hashimoto Y, Motoyoshi S, Yamaguchi K, Shichiri M
Abstract excerpt
Thyroxine-binding globulin (TBG) is the major thyroid hormone transport protein. Several inherited TBG variants resulting in partial or complete TBG deficiencies have been shown to be caused by either one or two nucleotide substitutions, or one nucleotide deletion in the coding regions of the TBG gene. In this report, a Japanese female patient (proband) with hyperthyroid state, whose lower TBG levels did not...
Topics
- Adult
- Base Sequence
- Codon
- Electrophoresis, Agar Gel
- Exons
- Female
- Genotype
- Graves Disease
- Humans
- Male
- Methimazole
- Molecular Sequence Data