Hypogonadotropic Hypogonadism due to a Novel Missense Mutation in the First Extracellular Loop of the Neurokinin B Receptor-Reference-Cited by-同舟云学术

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

Published:2009-10-01 Issue:10 Volume:94 Page:3633-3639
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Guran Tulay¹,Tolhurst Gwen²,Bereket Abdullah¹,Rocha Nuno³,Porter Keith³,Turan Serap¹,Gribble Fiona M.²,Kotan L. Damla⁴,Akcay Teoman¹,Atay Zeynep¹,Canan Husniye⁴,Serin Ayse⁴,O'Rahilly Stephen³,Reimann Frank²,Semple Robert K.³,Topaloglu A. Kemal⁵

Affiliation:

1. Pediatric Endocrinology (T.G., A.B., S.T., T.A., Z.A.), Marmara University Hospital, Altunizade, 34662 Istanbul, Turkey

2. University of Cambridge (F.R., F.M.G., G.T.), Department of Clinical Biochemistry, Addenbrooke’s Hospital, Cambridge CB2 8RP, United Kingdom

3. University of Cambridge Metabolic Research Laboratories (N.R., K.P., S.O., R.K.S.), Institute of Metabolic Science, Addenbrooke’s Hospital, Cambridge CB2 8RP, United Kingdom

4. Forensic Medicine (L.D.K., H.C., A.S.), Cukurova University, Faculty of Medicine, Balcali, 01330 Adana, Turkey

5. Pediatric Endocrinology and Metabolism (A.K.T.), Cukurova University, Faculty of Medicine, Balcali, 01330 Adana, Turkey

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/94/10/3633/9056999/jcem3633.pdf

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3. Hypogonadotropic hypogonadism.;Layman;Endocrinol Metab Clin N Am,2007

4. The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.;Hardelin;Sex Dev,2008

5. A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor.;Roux;N Engl J Med,1997

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