Mutational screening of CYP1B1 in Turkish PCG families and functional analyses of newly detected mutations

Bagiyeva S., Marfany G., Gonzalez-Angulo O., Gonzalez-Duarte R.

MOLECULAR VISION, cilt.13, ss.1458-1468, 2007 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 13
  • Basım Tarihi: 2007
  • Dergi Adı: MOLECULAR VISION
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1458-1468
  • Hacettepe Üniversitesi Adresli: Hayır

Özet

Purpose: To investigate the genetic basis of primary congenital glaucoma (PCG) in a collection of Turkish patients and to assess the pathogenicity of two novel alleles