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

BACKGROUND: Constitutively 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. ME...

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Detalles Bibliográficos
Autores principales: Biebermann, Heike, Winkler, Franziska, Handke, Daniela, Grüters, Annette, Krude, Heiko, Kleinau, Gunnar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3155114/
https://www.ncbi.nlm.nih.gov/pubmed/21835055
http://dx.doi.org/10.1186/1756-6614-4-S1-S8