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Missense models [Gus(tm(E536A)Sly), Gus(tm(E536Q)Sly), and Gus(tm(L175F)Sly)] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis
Human mucopolysaccharidosis VII (MPS VII, Sly syndrome) results from a deficiency of β-glucuronidase (GUS) and has been associated with a wide range in severity of clinical manifestations. To study missense mutant models of murine MPS VII with phenotypes of varying severity, we used targeted mutagen...
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Main Authors: | , , , , , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
National Academy of Sciences
2002
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC137531/ https://ncbi.nlm.nih.gov/pubmed/12403825 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.232570999 |
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