|
rs201048643
|
|
Mucopolysaccharidosis II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts.
|
16699754 |
2006 |
|
rs201048643
|
|
Mucopolysaccharidosis II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations.
|
11683780 |
2001 |
|
rs201048643
|
|
Mucopolysaccharidosis II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II.
|
11731225 |
2001 |
|
rs201048643
|
|
Mucopolysaccharidosis II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Expression of five iduronate-2-sulfatase site-directed mutations.
|
10838181 |
2000 |
|
rs201048643
|
|
Mucopolysaccharidosis II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients.
|
9921913 |
1998 |
|
rs201048643
|
|
Mucopolysaccharidosis II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online.
|
10215411 |
1998 |
|
rs201048643
|
|
Mucopolysaccharidosis II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).
|
9501270 |
1998 |
|
rs201048643
|
|
Mucopolysaccharidosis II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Hunter disease in the Spanish population: molecular analysis in 31 families.
|
9762601 |
1998 |
|
rs201048643
|
|
Mucopolysaccharidosis II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele.
|
9375851 |
1997 |
|
rs201048643
|
|
Mucopolysaccharidosis II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients.
|
9222763 |
1997 |
|
rs201048643
|
|
Mucopolysaccharidosis II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.
|
8566953 |
1996 |
|
rs201048643
|
|
Mucopolysaccharidosis II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
"Mucopolysaccharidosis type II (Hunter syndrome): mutation ""hot spots"" in the iduronate-2-sulfatase gene."
|
8940265 |
1996 |
|
rs201048643
|
|
Mucopolysaccharidosis II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.
|
7887413 |
1995 |
|
rs201048643
|
|
Mucopolysaccharidosis II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome.
|
7599640 |
1995 |
|
rs201048643
|
|
Mucopolysaccharidosis II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.
|
7581397 |
1995 |
|
rs201048643
|
|
Mucopolysaccharidosis II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).
|
7728156 |
1995 |
|
rs201048643
|
|
Mucopolysaccharidosis II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II).
|
7981716 |
1994 |
|
rs201048643
|
|
Mucopolysaccharidosis II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation analysis of Jewish Hunter patients in Israel.
|
7866405 |
1994 |
|
rs201048643
|
|
Mucopolysaccharidosis II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).
|
1303211 |
1992 |
|
rs201048643
|
|
Mucopolysaccharidosis II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression.
|
1284597 |
1992 |