Article
A novel variant of transthyretin (prealbumin), Thr119 to Met, associated with increased thyroxine binding.
Thyroid : official journal of the American Thyroid Association - 1 Jan 1992
Scrimshaw B J, Fellowes A P, Palmer B N, Croxson M S, Stockigt J R, George P M
Abstract excerpt
A group of patients with prealbumin associated hyperthyroxinemia possess a common single base substitution in the fourth exon of their transthyretin gene. This cytosine to thymine substitution occurs in the codon for residue 119 and results in the predicted replacement of a threonine residue with...
Topics
- Base Sequence
- DNA Probes
- Electrophoresis, Agar Gel
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Prealbumin