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

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 mutati...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Chkioua, Latifa, Khedhiri, Souhir, Ferchichi, Salima, Tcheng, Rémy, Chahed, Henda, Froissart, Roseline, Vianey-Saban, Christine, Laradi, Sandrine, Miled, Abdelhedi
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2011
Gaiak:
Case Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3115838/
https://ncbi.nlm.nih.gov/pubmed/21605424
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1746-1596-6-42
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