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-Expanded) 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
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.57-63
  • Anahtar Kelimeler: Congenital adrenal hyperplasia, CYP11B1, 11beta-hydroxylase deficiency, CYP11B1 novel mutations, CONGENITAL ADRENAL-HYPERPLASIA, STEROID 11-BETA-HYDROXYLASE DEFICIENCY, 11-HYDROXYLASE DEFICIENCY, DISORDERS, CHINESE, TURKEY, P450S
  • Hacettepe Üniversitesi Adresli: Evet

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.