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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Vydáno v:	Proc Natl Acad Sci U S A
Hlavní autoři:	Tomatsu, Shunji, Orii, Koji O., Vogler, Carole, Grubb, Jeffrey H., Snella, Elizabeth M., Gutierrez, Monica A., Dieter, Tatiana, Sukegawa, Kazuko, Orii, Tadao, Kondo, Naomi, Sly, William S.
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	National Academy of Sciences 2002
Témata:	Biological Sciences
On-line přístup:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC137531/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/12403825/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.232570999
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