Characterisation of three novel CYP11B1 mutations in classic and non-classic 11 beta-hydroxylase deficiency

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Polat S., Kulle A., Karaca Z., Akkurt I., Kurtoglu S., Kelestimur F., ...Daha Fazla

EUROPEAN JOURNAL OF ENDOCRINOLOGY, cilt.170, sa.5, ss.697-706, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 170 Sayı: 5
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1530/eje-13-0737
  • Dergi Adı: EUROPEAN JOURNAL OF ENDOCRINOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.697-706
  • Erzincan Binali Yıldırım Üniversitesi Adresli: Hayır

Özet

Background: Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive inherited endocrine diseases. Steroid 11 beta-hydroxylase (P450c11) deficiency (11OHD) is the second most common form of CAH.