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. , ...More

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, vol.165, pp.57-63, 2017 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 165
  • Publication Date: 2017
  • Doi Number: 10.1016/j.jsbmb.2016.03.006
  • Title of Journal : JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY
  • Page Numbers: pp.57-63
  • Keywords: 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

Abstract

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.