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Article

Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.

Proceedings of the National Academy of Sciences of the United States of America - 12 Nov 2002

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

Abstract excerpt

Human mucopolysaccharidosis VII (MPS VII, Sly syndrome) results from a deficiency of beta-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 mutagenesis to produce E536A and E536Q, corresponding to active-site nucleophile replacements E540A and E540Q in human...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 12403825
DOI: 10.1073/pnas.232570999
PMCID: PMC137531

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Source receipt: pubmed, retrieved 7 Sept 2026.

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