Mutations and Polymorphisms in GUSB Gene in Mucopolysaccharidosis VII (Sly Syndrome)

Mucopolysaccharidosis VII (MPS VII; Sly syndrome) is an autosomal recessive disorder caused by a deficiency of β-glucuronidase (GUS, EC 3.2.1.31; GUSB). GUS is required to degrade glycosaminoglycans (GAGs), including heparan sulfate (HS), dermatan sulfate (DS), and chondroitin-4,6-sulfate (CS). Accu...

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Bibliografiske detaljer
Main Authors: Tomatsu, Shunji, Montaño, Adriana M., Dung, Vu Chi, Grubb, Jeffrey H., Sly, William S.
Format: Artigo
Sprog:Inglês
Udgivet: 2009
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3048808/
https://ncbi.nlm.nih.gov/pubmed/19224584
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20828
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