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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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Bibliografski detalji
Glavni autori: Matthew Feldhammer, Stéphanie Durand, Alexey V Pshezhetsky
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science (PLoS) 2009-10-01
Serija:PLoS ONE
Online pristup:http://europepmc.org/articles/PMC2757673?pdf=render
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