Carregant...
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...
Guardat en:
Autors principals: | , , |
---|---|
Format: | Artigo |
Idioma: | Inglês |
Publicat: |
Public Library of Science (PLoS)
2009-10-01
|
Col·lecció: | PLoS ONE |
Accés en línia: | http://europepmc.org/articles/PMC2757673?pdf=render |
Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|