TURKISH JOURNAL OF MEDICAL SCIENCES, vol.46, no.2, pp.404-408, 2016 (Journal Indexed in SCI)
Article / Article
Title of Journal :
TURKISH JOURNAL OF MEDICAL SCIENCES
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
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.