Identification of constitutively activating somatic thyrotropin receptor mutations in a subset of toxic multinodular goiters.

@article{Holzapfel1997IdentificationOC,
  title={Identification of constitutively activating somatic thyrotropin receptor mutations in a subset of toxic multinodular goiters.},
  author={H P Holzapfel and D. J. Fuehrer and Peter Wonerow and G{\"u}nter Weinland and Werner Alfred Scherbaum and R. Paschke},
  journal={The Journal of clinical endocrinology and metabolism},
  year={1997},
  volume={82 12},
  pages={4229-33}
}
Constitutively activating mutations in the TSH receptor (TSHR) gene and in the Gs alpha gene are frequent molecular causes for solitary toxic nodules of the thyroid. However, the etiology of toxic multinodular goiter is still largely unknown. Therefore, DNA from nodular and quiescent surrounding tissue of six patients with toxic multinodular goiters was screened for mutations in exons 9 and 10 of the TSHR gene and exons 7-10 of the Gs alpha gene by direct automated sequencing. In one patient… CONTINUE READING
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