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Protein Misfolding as an Underlying Molecular Defect in Mucopolysaccharidosis III Type C
Mucopolysaccharidosis type IIIC or Sanfilippo syndrome type C (MPS IIIC, MIM #252930) is an autosomal recessive disorder caused by deficiency of the lysosomal membrane enzyme, heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (HGSNAT, EC 2.3.1.78), which catalyses transmembrane acetyla...
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| Autori principali: | , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Public Library of Science
2009
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2757673/ https://ncbi.nlm.nih.gov/pubmed/19823584 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0007434 |
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