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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Fan, Xiaolian, Zhang, Huiwen, Zhang, Sunqu, Bagshaw, Richard D., Tropak, Michael B., Callahan, John W., Mahuran, Don J.
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2006
Témata:
Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1592569/
https://ncbi.nlm.nih.gov/pubmed/16960811
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky