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Article

Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I.

Turkish journal of medical sciences - 17 Feb 2016

Atçeken Nazente, Özgül Rıza Köksal, Yücel Yilmaz Didem, Tokatli Ayşegül, Coşkun Turgay, Sivri Hatice Serap, Dursun Ali, Karaca Mehmet

Abstract excerpt

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. MATERIALS AND METHODS: Genetic analysis was carried out in 15 patients using direct DNA sequencing. Moreover, segregation analysis was...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27511503
DOI: 10.3906/sag-1411-160

Genes

IDUA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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