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 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 165
  • Publication Date: 2017
  • Doi Number: 10.1016/j.jsbmb.2016.03.006
  • Journal Name: JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • 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
  • Hacettepe University Affiliated: Yes

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.