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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...
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| Asıl Yazarlar: | , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BioMed Central
2011
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| Konular: | |
| Online Erişim: | 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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