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

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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 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 46 Issue: 2
  • Publication Date: 2016
  • Doi Number: 10.3906/sag-1411-160
  • Journal Name: TURKISH JOURNAL OF MEDICAL SCIENCES
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • 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
  • Hacettepe University Affiliated: Yes

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.