Publication: Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families
Loading...
Program
relationships.isAuthorOf
Author
OZBEK, M. Nuri
DEMIR, Korcan
KOTAN, LEMAN DAMLA
Cesur, YAŞAR
Dogan, Murat
Temiz, Fatih
Mengen, Eda
GÜRBÜZ, FATİH
YÜKSEL, BİLGİN
Advisor
Date
Language
Type
Publisher
Journal Title
Journal ISSN
Volume Title
Abstract
ObjectiveThe 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.
Description
Source
Keywords
Keywords
Citation
DEMIRBILEK 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