Yayın: 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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Kurum Yazarları
Yazarlar
OZBEK, M. Nuri
DEMIR, Korcan
KOTAN, LEMAN DAMLA
Cesur, YAŞAR
Dogan, Murat
Temiz, Fatih
Mengen, Eda
GÜRBÜZ, FATİH
YÜKSEL, BİLGİN
Danışman
Tarih
2015-03-01
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Article
Yayımcı
Dergi Başlığı
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Cilt Başlığı
Özet
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.
Açıklama
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Konusu
Alıntı
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