rs121918176
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings.
|
8089138 |
1994 |
rs121918176
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII.
|
8111413 |
1993 |
rs121918176
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.
|
7680524 |
1993 |
rs121918176
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.
|
12522561 |
2003 |
rs121918176
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family.
|
12859417 |
2003 |
rs121918176
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity.
|
1702266 |
1991 |
rs121918176
|
|
|
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 |
rs121918176
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.
|
8644704 |
1996 |
rs121918176
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes.
|
8111412 |
1993 |
rs121918176
|
|
|
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 |
rs121918176
|
|
|
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 |
rs121918176
|
|
|
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 |
rs121918176
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.
|
7573038 |
1995 |
rs121918176
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|