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.