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Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families

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dc.contributor.authorDEMIRBILEK, Huseyin
dc.contributor.authorOZBEK, M. Nuri
dc.contributor.authorDEMIR, Korcan
dc.contributor.authorKOTAN, LEMAN DAMLA
dc.contributor.authorCesur, YAŞAR
dc.contributor.authorDogan, Murat
dc.contributor.authorTemiz, Fatih
dc.contributor.authorMengen, Eda
dc.contributor.authorGÜRBÜZ, FATİH
dc.contributor.authorYÜKSEL, BİLGİN
dc.contributor.authorTopaloglu, A. Kemal
dc.contributor.institutionauthorCESUR, YAŞAR
dc.date.accessioned2019-10-05T21:49:11Z
dc.date.available2019-10-05T21:49:11Z
dc.date.issued2015-03-01
dc.description.abstractObjectiveThe spectrum of genetic alterations in cases of hypogonadotropic hypogonadism continue to expand. However, KISS1R mutations remain rare. The aim of this study was to understand the molecular basis of normosmic idiopathic hypogonadotropic hypogonadism.
dc.identifier
dc.identifier.citationDEMIRBILEK H., OZBEK M. N. , DEMIR K., KOTAN L. D. , Cesur Y., Dogan M., Temiz F., Mengen E., GÜRBÜZ F., YÜKSEL B., et al., -Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families-, CLINICAL ENDOCRINOLOGY, cilt.82, ss.429-438, 2015
dc.identifier.urihttps://hdl.handle.net/20.500.12645/8203
dc.language.isoen
dc.titleNormosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families
dc.typeArticle
dspace.entity.typePublication
local.article.journalnameJournal of Faculty Pharmacy of Istanbul University
local.avesis.idcc638217-e7a2-447e-90d0-2b8a1d815f03
local.avesis.response8079
relation.isAuthorOfPublicationddd881a5-c7cb-41e5-b4e1-0693a98a0d29
relation.isAuthorOfPublication.latestForDiscoveryddd881a5-c7cb-41e5-b4e1-0693a98a0d29

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