Variant: rs121918173 

    present in Gene: GUSB
    present in Chromosome: 7
    Position on Chromosome: 65974626
    Alleles of this Variant: G/A

rs121918173 in GUSB gene and Hydrops Fetalis, Non-Immune PMID 26036949 2015 Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.

rs121918173 in GUSB gene and Mucopolysaccharidosis VII PMID 12859417 2003 Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family.

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

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

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

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

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

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

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

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

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

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