Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.
Iduronate 2-sulfatase (IDS, EC 3.1.6.13) is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations causing IDS deficiency in humans result in the lysosomal storage of these glycosaminoglycans and Hunter syndrome, an X chromosome-linked disease. We have isolated and...
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| Publicado no: | Proc Natl Acad Sci U S A |
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| Principais autores: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
National Academy of Sciences
1990
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC54990/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2122463/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.87.21.8531 |
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