Article
A heritable point mutation in an extracellular domain of the TSH receptor involved in the interaction with Graves' immunoglobulins.
Biochimica et biophysica acta - 14 Dec 1993
Bohr U R, Behr M, Loos U
Abstract excerpt
The TSH receptor (TSHR) is the central antigen in Graves' disease. Variant receptor proteins, arising from mutations in the TSHR gene, may play a role in the pathogenesis of the disease. Therefore, we analysed the TSHR from a 38-year-old patient affected with autoimmune hyperthyroidism, diffuse goitre and ophthalmopathy. Reverse transcription PCR and DNA amplification followed by DNA sequencing revealed a point...
Topics
- Adult
- Alleles
- Amino Acid Sequence
- Base Sequence
- DNA
- DNA Primers
- Exons
- Female
- Graves Disease
- Humans
- Immunoglobulins
- Male
- Molecular Sequence Data
- Pedigree
- Point Mutation
- Polymerase Chain Reaction
- Proline
- Protein Structure, Secondary