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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...
Autores principales: | Chkioua, Latifa, Khedhiri, Souhir, Ferchichi, Salima, Tcheng, Rémy, Chahed, Henda, Froissart, Roseline, Vianey-Saban, Christine, Laradi, Sandrine, Miled, Abdelhedi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3115838/ https://www.ncbi.nlm.nih.gov/pubmed/21605424 http://dx.doi.org/10.1186/1746-1596-6-42 |
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