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

Demirbilek, HÜSEYİN; Ozbek, M.; Demir, Korcan; KOTAN, LEMAN; Cesur, Yasar; Dogan, Murat; Temiz, Fatih; Mengen, Eda; GÜRBÜZ, FATİH; YÜKSEL, BİLGİN; Topaloglu, A.

doi:10.1111/cen.12618

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

Atıf İçin Kopyala

Demirbilek H., Ozbek M. N., Demir K., KOTAN L. D., Cesur Y., Dogan M., ...Daha Fazla

CLINICAL ENDOCRINOLOGY, cilt.82, sa.3, ss.429-438, 2015 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 82 Sayı: 3
Basım Tarihi: 2015
Doi Numarası: 10.1111/cen.12618
Dergi Adı: CLINICAL ENDOCRINOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.429-438
Hacettepe Üniversitesi Adresli: Evet

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.