Article
Complete thyroxine-binding globulin (TBG) deficiency in two families without mutations in coding or promoter regions of the TBG genes: in vitro demonstration of exon skipping.
The Journal of clinical endocrinology and metabolism - 1 Mar 2002
Reutrakul Sirimon, Dumitrescu Alexandra, Macchia Paolo E, Moll George William, Vierhapper H, Refetoff Samuel
Abstract excerpt
Inherited thyroxine-binding globulin (TBG) deficiency is caused by mutations in the TBG gene located on the X-chromosome. We now describe two families (K and H) with X-linked complete TBG deficiency without mutations in the coding or promoter regions of the TBG gene. The propositi of both families presented with euthyroid hypothyroxinemia and were found to have undetectable TBG in serum. Affected females had...
Topics
- Adult
- Alleles
- Amino Acid Sequence
- Animals
- Base Sequence
- COS Cells
- Child, Preschool
- Chromosome Segregation
- Exons
- Female
- Homozygote