Yayınlanmış 1 Ocak 2015
| Sürüm v1
Dergi makalesi
Açık
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families
Oluşturanlar
- 1. Diyarbakir Childrens State Hosp, Div Pediat Endocrinol, TR-21100 Diyarbakir, Turkey
- 2. Childrens Hosp, Div Pediat Endocrinol, Gaziantep, Turkey
- 3. Cukurova Univ, Inst Sci, Dept Biotechnol, Adana, Turkey
- 4. Yuzuncu Yil Univ, Div Pediat Endocrinol, Van, Turkey
- 5. Cukurova Univ, Div Pediat Endocrinol, Fac Med, Adana, Turkey
Açıklama
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.
Dosyalar
bib-8d9b07f9-048a-4e86-8f87-0650d88ad3a1.txt
Dosyalar
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