Article
Gene screening in Japanese families with complete deficiency of thyroxine-binding globulin demonstrates that a nucleotide deletion at codon 352 may be a race specific mutation.
Clinical endocrinology - 1 Feb 1994
Takeda K, Iyota K, Mori Y, Tamura Y, Suehiro T, Kubo Y, Refetoff S, Hashimoto K
Abstract excerpt
OBJECTIVE: Thyroxine-binding globulin (TBG) is a serum protein that transports 75% of circulating thyroxine. Eleven naturally occurring mutations in the human TBG gene have been identified, ten of which alter the properties of the molecule. Three of these mutations produce complete deficiency of...
Topics
- Alleles
- Base Sequence
- Codon
- Female
- Gene Amplification
- Gene Deletion
- Genetic Testing
- Humans
- Japan
- Male
- Molecular Sequence Data
- Mutation
- Native Hawaiian or Pacific Islander
- Polymerase Chain Reaction
- Thyroxine-Binding Proteins