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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: alpha-glucosaminide N-acetyltransferase (HGSNAT, EC 2.3.1.78), which catalyses transmembrane ace...
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| Autores principales: | , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Public Library of Science (PLoS)
2009-10-01
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| Colección: | PLoS ONE |
| Acceso en línea: | http://europepmc.org/articles/PMC2757673?pdf=render |
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