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...

Descrizione completa

Dettagli Bibliografici

Pubblicato in:	Proc Natl Acad Sci U S A
Autori principali:	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.
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	National Academy of Sciences 2002
Soggetti:	Biological Sciences
Accesso online:	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
Tags:	Aggiungi Tag Nessun Tag, puoi essere il primo ad aggiungerne!!