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Article

Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II.

Diagnostic pathology - 23 May 2011

Chkioua Latifa, Khedhiri Souhir, Ferchichi Salima, Tcheng Rémy, Chahed Henda, Froissart Roseline, Vianey-Saban Christine, Laradi Sandrine, Miled Abdelhedi

Abstract excerpt

UNLABELLED: Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is X-linked recessive lysosomal storage disorder resulting from the defective activity of the enzyme iduronate-2-sulfatase (IDS). Hunter disease can vary from mild to severe, depending on the level of enzyme deficiency. We report the IDS mutation and polymorphisms causing the Hunter syndrome in patients from one family in Tunisia PATIENTS AND...

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Identifiers

PMID: 21605424
DOI: 10.1186/1746-1596-6-42
PMCID: PMC3115838

Genes

IDS

Variants

Provenance

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Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II.PMID 21605424Read ↗

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