Variant: rs121918181 

    present in Gene: GUSB
    present in Chromosome: 7
    Position on Chromosome: 65979782
    Alleles of this Variant: G/A

rs121918181 in GUSB gene and Mucopolysaccharidosis VI PMID 19224584 2009 Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).

PMID 30413728 2018 Lysosomal and network alterations in human mucopolysaccharidosis type VII iPSC-derived neurons.

PMID 12403825 2002 Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.

PMID 8089138 1994 Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings.

PMID 12859417 2003 Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family.

PMID 8644704 1996 Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.

PMID 26908836 2016 Clinical course of sly syndrome (mucopolysaccharidosis type VII).

rs121918181 in GUSB gene and Mucopolysaccharidosis VII PMID 12522561 2003 Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.

PMID 12859417 2003 Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family.

PMID 7680524 1993 Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.

PMID 8707294 1996 beta-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients.

PMID 9099834 1997 Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region.

PMID 9490302 1998 Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote.

PMID 1702266 1991 Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity.

PMID 8089138 1994 The L176F/P649L enzyme was as stable as wild-type enzyme following endocytosis by fibroblasts and delivery to lysosomes, but was more labile to heat inactivation at 65 degrees C. To study the mutant enzyme at lower levels of expression, we stably transfected mouse mucopolysaccharidosis type VII cells with the L176F/P649L cDNA and selected single-copy cell lines.

PMID 7573038 1995 The 480G-->A mutation was found initially in the pseudodeficient mother of a child with mucopolysaccharidosis VII (MPSVII), but it was not on her disease-causing allele, which carried the L176F mutation.

PMID 7633414 1995 Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site.

PMID 8111412 1993 Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes.

PMID 8644704 1996 Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.

PMID 8111413 1993 Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII.