Identification of the Gene Encoding the Enzyme Deficient in Mucopolysaccharidosis IIIC (Sanfilippo Disease Type C)

Mucopolysaccharidosis IIIC (MPS IIIC), or Sanfilippo C, represents the only MPS disorder in which the responsible gene has not been identified; however, the gene has been localized to the pericentromeric region of chromosome 8. In an ongoing proteomics study of mouse lysosomal membrane proteins, we...

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Main Authors: Fan, Xiaolian, Zhang, Huiwen, Zhang, Sunqu, Bagshaw, Richard D., Tropak, Michael B., Callahan, John W., Mahuran, Don J.
Format: Artigo
Jezik:Inglês
Izdano: The American Society of Human Genetics 2006
Teme:
Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1592569/
https://ncbi.nlm.nih.gov/pubmed/16960811
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