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., ...Daha Fazla

TURKISH JOURNAL OF MEDICAL SCIENCES, cilt.46, sa.2, ss.404-408, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 46 Sayı: 2
  • Basım Tarihi: 2016
  • Doi Numarası: 10.3906/sag-1411-160
  • Dergi Adı: TURKISH JOURNAL OF MEDICAL SCIENCES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.404-408
  • Anahtar Kelimeler: 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 Üniversitesi Adresli: Evet

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.