Wordt geladen...
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...
Bewaard in:
Hoofdauteurs: | , , |
---|---|
Formaat: | Artigo |
Taal: | Inglês |
Gepubliceerd in: |
Public Library of Science (PLoS)
2009-10-01
|
Reeks: | PLoS ONE |
Online toegang: | http://europepmc.org/articles/PMC2757673?pdf=render |
Tags: |
Voeg label toe
Geen labels, Wees de eerste die dit record labelt!
|