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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Detaylı Bibliyografya
Yayımlandı:J Clin Endocrinol Metab
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2009
Konular:
Article
Online Erişim: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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