Article
A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia.
The Journal of clinical investigation - 1 Dec 1990
Moses A C, Rosen H N, Moller D E, Tsuzaki S, Haddow J E, Lawlor J, Liepnieks J J, Nichols W C, Benson M D
Abstract excerpt
In a family expressing euthyroid hyperthyroxinemia, an increased association of plasma thyroxine (T4) with transthyretin (TTR) is transmitted by autosomal dominant inheritance and is secondary to a mutant TTR molecule with increased affinity for T4. Eight individuals spanning three generations exhibited the abnormality. Although five of eight individuals had elevated total T4 concentrations, all affected...
Topics
- Amino Acid Sequence
- Base Sequence
- Humans
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Prealbumin
- Protein Binding