|
rs113993946
|
|
Mucopolysaccharidosis II
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome.
|
25681085 |
2015 |
|
rs113993946
|
|
Mucopolysaccharidosis II
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America.
|
25071396 |
2014 |
|
rs113993946
|
|
Mucopolysaccharidosis II
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: mucopolysaccharidosis type II.
|
21863056 |
2012 |
|
rs113993946
|
|
Mucopolysaccharidosis II
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome.
|
18500569 |
2008 |
|
rs113993946
|
|
Mucopolysaccharidosis II
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Detection of Hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers.
|
16480701 |
2006 |
|
rs113993946
|
|
Mucopolysaccharidosis II
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).
|
9950361 |
1999 |
|
rs113993946
|
|
Mucopolysaccharidosis II
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease).
|
9875019 |
1998 |
|
rs113993946
|
|
Mucopolysaccharidosis II
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients.
|
9222763 |
1997 |
|
rs113993946
|
|
Mucopolysaccharidosis II
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.
|
7581397 |
1995 |
|
rs113993946
|
|
Mucopolysaccharidosis II
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene.
|
8364592 |
1993 |
|
rs104894853
|
|
Mucopolysaccharidosis II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America.
|
25071396 |
2014 |
|
rs104894853
|
|
Mucopolysaccharidosis II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: mucopolysaccharidosis type II.
|
21863056 |
2012 |
|
rs104894853
|
|
Mucopolysaccharidosis II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts.
|
16699754 |
2006 |
|
rs104894853
|
|
Mucopolysaccharidosis II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II.
|
11731225 |
2001 |
|
rs104894853
|
|
Mucopolysaccharidosis II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations.
|
11683780 |
2001 |
|
rs104894853
|
|
Mucopolysaccharidosis II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Expression of five iduronate-2-sulfatase site-directed mutations.
|
10838181 |
2000 |
|
rs104894853
|
|
Mucopolysaccharidosis II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online.
|
10215411 |
1998 |
|
rs104894853
|
|
Mucopolysaccharidosis II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hunter disease in the Spanish population: molecular analysis in 31 families.
|
9762601 |
1998 |
|
rs104894853
|
|
Mucopolysaccharidosis II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).
|
9501270 |
1998 |
|
rs104894853
|
|
Mucopolysaccharidosis II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients.
|
9921913 |
1998 |
|
rs104894853
|
|
Mucopolysaccharidosis II
|
|
0.800 |
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 |
|
rs104894853
|
|
Mucopolysaccharidosis II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients.
|
9222763 |
1997 |
|
rs104894853
|
|
Mucopolysaccharidosis II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.
|
8566953 |
1996 |
|
rs104894853
|
|
Mucopolysaccharidosis II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
"Mucopolysaccharidosis type II (Hunter syndrome): mutation ""hot spots"" in the iduronate-2-sulfatase gene."
|
8940265 |
1996 |
|
rs104894853
|
|
Mucopolysaccharidosis II
|
|
0.800 |
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 |