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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| Publicado no: | Proc Natl Acad Sci U S A |
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| Principais autores: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
National Academy of Sciences
1999
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC24466/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/10588735/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.96.25.14505 |
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