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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Главные авторы: Fan, Xiaolian, Zhang, Huiwen, Zhang, Sunqu, Bagshaw, Richard D., Tropak, Michael B., Callahan, John W., Mahuran, Don J.
Формат: Artigo
Язык:Inglês
Опубликовано: The American Society of Human Genetics 2006
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Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1592569/
https://ncbi.nlm.nih.gov/pubmed/16960811
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