rs121918175
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.800
GeneticVariation
UNIPROT
Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.
12522561
2003
rs121918175
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.800
GeneticVariation
UNIPROT
Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family.
12859417
2003
rs121918175
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.800
GeneticVariation
UNIPROT
Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote.
9490302
1998
rs121918175
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.800
GeneticVariation
UNIPROT
Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region.
9099834
1997
rs121918175
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.800
GeneticVariation
UNIPROT
beta-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients.
8707294
1996
rs121918175
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.800
GeneticVariation
UNIPROT
Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.
8644704
1996
rs121918175
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.800
GeneticVariation
UNIPROT
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.
7633414
1995
rs121918175
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.800
GeneticVariation
UNIPROT
A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.
7573038
1995
rs121918175
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.800
GeneticVariation
UNIPROT
Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings.
8089138
1994
rs121918175
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.800
GeneticVariation
UNIPROT
Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.
7680524
1993
rs121918175
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.800
GeneticVariation
UNIPROT
Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII.
8111413
1993
rs121918175
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.800
GeneticVariation
UNIPROT
Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes.
8111412
1993
rs121918175
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.800
GeneticVariation
UNIPROT
Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity.
1702266
1991
rs121918175
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
A
0.800
CausalMutation
CLINVAR