NAGLU mutations underlying Sanfilippo syndrome type B.

Sanfilippo syndrome type B (mucopolysaccharidosis III B) is a rare autosomal recessive disease caused by deficiency of alpha-N-acetylglucosaminidase, one of the enzymes required for the lysosomal degradation of heparan sulfate. The gene for this enzyme, NAGLU, recently was isolated, and several muta...

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Hlavní autoři: Schmidtchen, A, Greenberg, D, Zhao, H G, Li, H H, Huang, Y, Tieu, P, Zhao, H Z, Cheng, S, Zhao, Z, Whitley, C B, Di Natale, P, Neufeld, E F
Médium: Artigo
Jazyk:Inglês
Vydáno: 1998
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1376809/
https://ncbi.nlm.nih.gov/pubmed/9443878
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