Evaluation and identification of IDUA gene mutations in Turkish patients with mucopolysaccharidosis type I


Atceken N. , ÖZGÜL R. K. , Yilmaz D. Y. , TOKATLI A. , COŞKUN T. , SİVRİ H. S. , ...Daha Fazla

TURKISH JOURNAL OF MEDICAL SCIENCES, cilt.46, ss.404-408, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 46 Konu: 2
  • Basım Tarihi: 2016
  • Doi Numarası: 10.3906/sag-1411-160
  • Dergi Adı: TURKISH JOURNAL OF MEDICAL SCIENCES
  • Sayfa Sayıları: ss.404-408

Özet

Background/aim: This study aimed to identify IDUA gene mutations in Turkish patients morphologically (phenotypic) diagnosed with MPS type I. It also sought to discuss the possible effects of detected mutations on alpha-L-iduronidase enzyme function based on current knowledge.