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Article

Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms.

Diagnostic pathology - 26 Apr 2011

Chkioua Latifa, Khedhiri Souhir, Kassab Asma, Bibi Amina, Ferchichi Salima, Froissart Roseline, Vianey-Saban Christine, Laradi Sandrine, Miled Abdelhedi

Abstract excerpt

UNLABELLED: Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha-L-iduronidase (IDUA) which is involved in the degradation of dermatan and heparan sulfates. The disease has severe and milder phenotypic subtypes. The aim of this study was the detection of mutations in the IDUA gene from 12 additional MPS I patients with various clinical...

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Source

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Identifiers

PMID: 21521498
DOI: 10.1186/1746-1596-6-39
PMCID: PMC3110106

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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