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. , ...More

TURKISH JOURNAL OF MEDICAL SCIENCES, vol.46, no.2, pp.404-408, 2016 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 46 Issue: 2
  • Publication Date: 2016
  • Doi Number: 10.3906/sag-1411-160
  • Title of Journal : TURKISH JOURNAL OF MEDICAL SCIENCES
  • Page Numbers: pp.404-408
  • Keywords: IDUA gene, mutation analysis, MPS type I, alpha-L-iduronidase, ALPHA-L-IDURONIDASE, ENZYME REPLACEMENT THERAPY, MOLECULAR-GENETICS, HURLER-SYNDROME, HIGH PREVALENCE, FREQUENCY, W402X, MPS

Abstract

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.