Identification of frequency and distribution of the nine most frequent mutations among patients with 21-hydroxylase deficiency in Turkey

Sadeghi F., KUTLAY N., BERBEROĞLU M., Cetinkaya E., AYCAN Z., Kara C., ...More

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.21, no.8, pp.781-787, 2008 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 21 Issue: 8
  • Publication Date: 2008
  • Doi Number: 10.1515/jpem.2008.21.8.781
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.781-787
  • Keywords: congenital adrenal hyperplasia, 21-OHD, CYP21A2, Turkey, CONGENITAL ADRENAL-HYPERPLASIA, STEROID 21-HYDROXYLASE, MOLECULAR-GENETICS, GENES, COMPLEMENT, PHENOTYPE, DIAGNOSIS, HETEROGENEITY, COMPONENT, GENOTYPE
  • Ankara University Affiliated: Yes

Abstract

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders mainly due to defects in the steroid 21-hydroxylase,(CYP21A2) gene.