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., ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.21, sa.8, ss.781-787, 2008 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 21 Sayı: 8
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1515/jpem.2008.21.8.781
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.781-787
  • Anahtar Kelimeler: congenital adrenal hyperplasia, 21-OHD, CYP21A2, Turkey, CONGENITAL ADRENAL-HYPERPLASIA, STEROID 21-HYDROXYLASE, MOLECULAR-GENETICS, GENES, COMPLEMENT, PHENOTYPE, DIAGNOSIS, HETEROGENEITY, COMPONENT, GENOTYPE
  • Ankara Üniversitesi Adresli: Evet

Özet

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