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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
GUSB
gene.
Entrez
Gene
OMIM:
BETA-GLUCURONIDASE
Storch S, Wittenstein B, Islam R, Ullrich K, Sly WS, Braulke T. Mutational analysis in longest known survivor of mucopolysaccharidosis type VII. Hum Genet. 2003 Feb;112(2):190-4. Epub 2002 Nov 5.
PubMed citation
Tomatsu S, Montaņo AM, Dung VC, Grubb JH, Sly WS. Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). Hum Mutat. 2009 Apr;30(4):511-9. doi: 10.1002/humu.20828. Review.
PubMed citation
Vervoort R, Islam MR, Sly WS, Zabot MT, Kleijer WJ, Chabas A, Fensom A, Young EP, Liebaers I, Lissens W. Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII. Am J Hum Genet. 1996 Mar;58(3):457-71.
PubMed citation
Reviewed: August 2010
Published: June 17, 2013
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