Associated Papers
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
Tomatsu S et al.
Human Mutation, 2009
A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human beta-glucuronidase gene.
Vervoort R et al.
Human Genetics, 1998
Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote.
Vervoort R et al.
Human Genetics, 1998
A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.
Vervoort R et al.
American Journal of Human Genetics, 1995
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