Hypogonadotropic Hypogonadism due to a Novel Missense Mutation in the First Extracellular Loop of the Neurokinin B Receptor

CONTEXT: The neurokinin B (NKB) receptor, encoded by TACR3, is widely expressed within the central nervous system, including hypothalamic nuclei involved in regulating GnRH release. We have recently reported two mutations in transmembrane segments of the receptor and a missense mutation in NKB in pa...

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Publicado en:J Clin Endocrinol Metab
Autores principales: Guran, Tulay, Tolhurst, Gwen, Bereket, Abdullah, Rocha, Nuno, Porter, Keith, Turan, Serap, Gribble, Fiona M., Kotan, L. Damla, Akcay, Teoman, Atay, Zeynep, Canan, Husniye, Serin, Ayse, O’Rahilly, Stephen, Reimann, Frank, Semple, Robert K., Topaloglu, A. Kemal
Formato: Artigo
Lenguaje:Inglês
Publicado: 2009
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4306717/
https://ncbi.nlm.nih.gov/pubmed/19755480
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2009-0551
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