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Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding α-N-acetylglucosaminidase

The Sanfilippo syndrome type B is an autosomal recessive disorder caused by mutation in the gene (NAGLU) encoding α-N-acetylglucosaminidase, a lysosomal enzyme required for the stepwise degradation of heparan sulfate. The most serious manifestations are profound mental retardation, intractable behav...

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Autors principals: Li, Hong Hua, Yu, Wei-Hong, Rozengurt, Nora, Zhao, Hui-Zhi, Lyons, Karen M., Anagnostaras, Stephan, Fanselow, Michael S., Suzuki, Kunihiko, Vanier, Marie T., Neufeld, Elizabeth F.
Format: Artigo
Idioma:Inglês
Publicat: The National Academy of Sciences 1999
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC24466/
https://ncbi.nlm.nih.gov/pubmed/10588735
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