Variant: rs121918172

present in Gene: GUSB present in Chromosome: 7 Position on Chromosome: 65960997 Alleles of this Variant: G/A

rs121918172 in GUSB gene and Mucopolysaccharidosis VII 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 8111413 1993 Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII.

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

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

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

PMID 12522561 2003 Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.

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

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 7573038 1995 A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.