載入...

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...

全面介紹

Na minha lista:
書目詳細資料
Main Authors: Feldhammer, Matthew, Durand, Stéphanie, Pshezhetsky, Alexey V.
格式: Artigo
語言:Inglês
出版: Public Library of Science 2009
主題:
在線閱讀: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
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!