Article
Gene screening of 23 Japanese families with complete thyroxine-binding globulin deficiency: identification of a nucleotide deletion at codon 352 as a common cause.
Endocrine journal - 1 Oct 1993
Yamamori I, Mori Y, Miura Y, Tani Y, Imamura S, Oiso Y, Seo H
Abstract excerpt
Thyroxine-binding globulin (TBG) is a major thyroid hormone transport protein in human serum. Its complete deficiency (TBG-CD) is one of inherited TBG abnormalities that transmit on X-chromosome. We previously reported a nucleotide deletion at codon 352 of the TBG gene (TBG-CDJ) in Japanese famil...
Topics
- Alleles
- Asian People
- Base Sequence
- Codon
- DNA Mutational Analysis
- Female
- Genes
- Genetic Testing
- Genotype
- Humans
- Japan
- Male
- Molecular Sequence Data
- Polymerase Chain Reaction
- Prevalence
- Sequence Deletion
- Thyroxine-Binding Proteins