Molecular description of non-autoimmune hyperthyroidism at a neonate caused by a new thyrotropin receptor germline mutation

@inproceedings{Biebermann2011MolecularDO,
  title={Molecular description of non-autoimmune hyperthyroidism at a neonate caused by a new thyrotropin receptor germline mutation},
  author={Heike Biebermann and Franziska Winkler and Daniela Handke and Annette Grueters and Heiko Krude and Gunnar Kleinau},
  booktitle={Thyroid research},
  year={2011}
}
BackgroundConstitutively activating germline mutations in the thyrotropin receptor (TSHR) gene result in non-autoimmune hyperthyroidism and can be transmitted as a dominant trait or occur sporadically. These mutations are mostly located in the serpentine part of this G-protein coupled receptor.MethodsSequencing exon 9 and 10 of the thyrotropin receptor gene in a two months old patient identified a mutation which was functionally characterized after transient transfection into COS-7 cells. Cell… CONTINUE READING
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