Mucopolysaccharidosis VII
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Mucopolysaccharidosis VII
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
Mucopolysaccharidosis VII
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A point mutation which occurred in the human beta-glucuronidase gene in a patient with mucopolysaccharidosis type VII was also conserved.
|
1318788 |
1992 |
Mucopolysaccharidosis VII
|
1.000 |
Biomarker
|
disease |
BEFREE |
We report on a 20-year-old male with a beta-glucuronidase (GUSB) deficiency mucopolysaccharidosis.
|
1456283 |
1992 |
Mucopolysaccharidosis VII
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified two different exonic point mutations causing beta-glucuronidase (beta G1) deficiency in two Japanese patients with mucopolysaccharidosis type VII (MPSVII).
|
1702266 |
1991 |
Mucopolysaccharidosis VII
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We identified two different exonic point mutations causing beta-glucuronidase (beta G1) deficiency in two Japanese patients with mucopolysaccharidosis type VII (MPSVII).
|
1702266 |
1991 |
Mucopolysaccharidosis VII
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Low enzymatic activity can be related to a non-pathological 'pseudodeficiency' allele for beta-glucuronidase; this woman appears to be an apparent compound heterozygote for this allele and mucopolysaccharidosis VII.
|
1779649 |
1991 |
Mucopolysaccharidosis VII
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Transgenic mice homozygous for the mucopolysaccharidosis VII mutation expressed high levels of human beta-glucuronidase activity in all tissues examined and were phenotypically normal.
|
2111021 |
1990 |
Mucopolysaccharidosis VII
|
1.000 |
Biomarker
|
disease |
MGD |
Transgenic mice homozygous for the mucopolysaccharidosis VII mutation expressed high levels of human beta-glucuronidase activity in all tissues examined and were phenotypically normal.
|
2111021 |
1990 |
Mucopolysaccharidosis VII
|
1.000 |
Biomarker
|
disease |
BEFREE |
Molecular basis of mucopolysaccharidosis type VII: replacement of Ala619 in beta-glucuronidase with Val.
|
2115490 |
1990 |
Mucopolysaccharidosis VII
|
1.000 |
Biomarker
|
disease |
BEFREE |
Vector-mediated gene transfer into human and canine beta-glucuronidase-deficient mucopolysaccharidosis type VII fibroblasts completely corrected the deficiency in beta-glucuronidase enzymatic activity.
|
2158095 |
1990 |
Mucopolysaccharidosis VII
|
1.000 |
Biomarker
|
disease |
MGD |
Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency.
|
2495302 |
1989 |
Mucopolysaccharidosis VII
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Mucopolysaccharidosis type VII is a lysosomal storage disease resulting from a deficiency of beta-glucuronidase (BG) activity.
|
3924735 |
1985 |
Mucopolysaccharidosis VII
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis.
|
4265197 |
1973 |
Mucopolysaccharidosis VII
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The 480G-->A change was also present in an unrelated individual with another MPSVII allele who had unusually low beta-glucuronidase activity, but whose clinical symptoms were probably unrelated to beta-glucuronidase deficiency.
|
7573038 |
1995 |
Mucopolysaccharidosis VII
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The 480G-->A change was also present in an unrelated individual with another MPSVII allele who had unusually low beta-glucuronidase activity, but whose clinical symptoms were probably unrelated to beta-glucuronidase deficiency.
|
7573038 |
1995 |
Mucopolysaccharidosis VII
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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 |
Mucopolysaccharidosis VII
|
1.000 |
GeneticVariation
|
disease |
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 |
Mucopolysaccharidosis VII
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
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 |
Mucopolysaccharidosis VII
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A recombinant adenovirus carrying the human beta-glucuronidase cDNA coding region under the control of a non-tissue-specific promoter was injected intravitreally or subretinally into the eyes of mice with mucopolysaccharidosis VII.
|
7644479 |
1995 |
Mucopolysaccharidosis VII
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.
|
7680524 |
1993 |
Mucopolysaccharidosis VII
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.
|
7680524 |
1993 |
Mucopolysaccharidosis VII
|
1.000 |
Biomarker
|
disease |
BEFREE |
An in vitro model for cross-correction of lysosomal storage disorders from genetically modified cells was developed to approximate the physiological conditions needed for gene therapy in vivo. beta-Glucuronidase (GUSB)-deficient mucopolysaccharidosis (MPS) type VII (Sly disease) cells were studied to determine the amount and stability of enzyme transfer.
|
7925654 |
1994 |
Mucopolysaccharidosis VII
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings.
|
8089138 |
1994 |
Mucopolysaccharidosis VII
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes.
|
8111412 |
1993 |