rs121918181
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.820
GeneticVariation
UNIPROT
Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.
12522561
2003
rs121918181
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.820
GeneticVariation
UNIPROT
Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family.
12859417
2003
rs121918181
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.820
GeneticVariation
BEFREE
Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F )Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.
12403825
2002
rs121918181
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.820
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
rs121918181
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.820
GeneticVariation
UNIPROT
Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region.
9099834
1997
rs121918181
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.820
GeneticVariation
UNIPROT
beta-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients.
8707294
1996
rs121918181
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.820
GeneticVariation
UNIPROT
Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.
8644704
1996
rs121918181
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.820
GeneticVariation
UNIPROT
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.
7573038
1995
rs121918181
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.820
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
rs121918181
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.820
GeneticVariation
UNIPROT
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.
8089138
1994
rs121918181
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.820
GeneticVariation
BEFREE
Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings.
8089138
1994
rs121918181
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.820
GeneticVariation
UNIPROT
Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.
7680524
1993
rs121918181
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.820
GeneticVariation
UNIPROT
Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII.
8111413
1993
rs121918181
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.820
GeneticVariation
UNIPROT
Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes.
8111412
1993
rs121918181
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
0.820
GeneticVariation
UNIPROT
Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity.
1702266
1991
rs121918181
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Mucopolysaccharidosis VII
A
0.820
CausalMutation
CLINVAR