Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-beta hydroxylase deficiency


KANDEMİR N. , Yilmaz D. Y. , GÖNÇ E. N. , Ozon A., ALİKAŞİFOĞLU A. , DURSUN A. , ...Daha Fazla

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, cilt.165, ss.57-63, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 165
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1016/j.jsbmb.2016.03.006
  • Dergi Adı: JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY
  • Sayfa Sayıları: ss.57-63

Özet

11 beta-Hydroxylase deficiency is the second most frequent type of congenital adrenal hyperplasia and is more common in those of Turkish descent than in other populations. The purpose of this study is to examine the spectrum of CYP11B1 gene mutations in Turkish patients with 11 beta-hydroxylase deficiency.