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Article

Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome.

Diagnostic pathology - 29 May 2018

Chkioua Latifa, Boudabous Hela, Jaballi Ibtissem, Grissa Oussama, Turkia Hadhami Ben, Tebib Neji, Laradi Sandrine

Abstract excerpt

BACKGROUND: The mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease resulting from the defective activity of the enzyme α-L-iduronidase (IDUA). The disease has three major clinical subtypes (severe Hurler syndrome, intermediate Hurler-Scheie syndrome and attenuated Scheie syndrome). We aim to identify the genetic variants in MPS I patients and to investigate the effect of the novel splice site...

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Source

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Identifiers

PMID: 29843745
DOI: 10.1186/s13000-018-0710-3
PMCID: PMC5975427

Genes

IDUA

Variants

Provenance

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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