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Article

A somatic point mutation in a putative ligand binding domain of the TSH receptor in a patient with autoimmune hyperthyroidism.

The Journal of clinical endocrinology and metabolism - 1 Dec 1991

Heldin N E, Gustavsson B, Westermark K, Westermark B

Abstract excerpt

Nucleotide sequence analysis of PCR fragments of TSH receptor cDNA synthesized from thyroid RNA of a patient with autoimmune hyperthyroidism, revealed two different sequences in the first position of codon 36. In one of the sequences, there was a C for G substitution leading to the D36----H substitution in the predicted peptide. Both variants were also found in genomic DNA of thyroid tissue. However, only the...

Topics

Adult
Autoimmune Diseases
Base Sequence
DNA
Humans
Hyperthyroidism
Ligands
Male
Molecular Sequence Data
Mutation
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptors, Thyrotropin

Source

Identifiers

PMID: 1955520
DOI: 10.1210/jcem-73-6-1374

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1955520-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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