Active site mutant transgene confers tolerance to human β-glucuronidase without affecting the phenotype of MPS VII mice
Mucopolysaccharidosis type VII (MPS VII; Sly syndrome) is an autosomal recessive lysosomal storage disorder due to an inherited deficiency of β-glucuronidase. A naturally occurring mouse model for this disease was discovered at The Jackson Laboratory and shown to be due to homozygosity for a 1-bp de...
Kaydedildi:
| Yayımlandı: | Proc Natl Acad Sci U S A |
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| Asıl Yazarlar: | , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
National Academy of Sciences
2001
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC30116/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/11226217/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.051623698 |
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