×
Entrez Id:
3423
Gene Symbol:
IDS
IDS
Mucopolysaccharidosis II
1.000
Biomarker
CTD_human
×
Entrez Id:
3423
Gene Symbol:
IDS
IDS
Mucopolysaccharidosis II
1.000
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
×
Entrez Id:
3423
Gene Symbol:
IDS
IDS
Mucopolysaccharidosis II
1.000
Biomarker
CLINGEN
This study has demonstrated a procedure capable of detecting all types of mutation that affect the function of the IDS protein and should enable direct carrier and prenatal diagnosis for Hunter syndrome families.
1639384
1992
×
Entrez Id:
3423
Gene Symbol:
IDS
IDS
Mucopolysaccharidosis II
1.000
GeneticVariation
UNIPROT
Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome ).
1303211
1992
×
Entrez Id:
3423
Gene Symbol:
IDS
IDS
Mucopolysaccharidosis II
1.000
Biomarker
GENOMICS_ENGLAND
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
×
Entrez Id:
3423
Gene Symbol:
IDS
IDS
Mucopolysaccharidosis II
1.000
GeneticVariation
UNIPROT
Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome ).
8281149
1993
×
Entrez Id:
3423
Gene Symbol:
IDS
IDS
Mucopolysaccharidosis II
1.000
GeneticVariation
UNIPROT
Mutations of the iduronate-2-sulfatase (IDS ) gene in patients with Hunter syndrome (mucopolysaccharidosis II ).
7981716
1994
×
Entrez Id:
3423
Gene Symbol:
IDS
IDS
Mucopolysaccharidosis II
1.000
GeneticVariation
UNIPROT
Mutation analysis of Jewish Hunter patients in Israel.
7866405
1994
×
Entrez Id:
3423
Gene Symbol:
IDS
IDS
Mucopolysaccharidosis II
1.000
GeneticVariation
UNIPROT
Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome .
7599640
1995
×
Entrez Id:
3423
Gene Symbol:
IDS
IDS
Mucopolysaccharidosis II
1.000
GeneticVariation
UNIPROT
Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome ).
7728156
1995
×
Entrez Id:
3423
Gene Symbol:
IDS
IDS
Mucopolysaccharidosis II
1.000
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
×
Entrez Id:
3423
Gene Symbol:
IDS
IDS
Mucopolysaccharidosis II
1.000
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
×
Entrez Id:
3423
Gene Symbol:
IDS
IDS
Mucopolysaccharidosis II
1.000
GeneticVariation
UNIPROT
Mucopolysaccharidosis type II (Hunter syndrome ): mutation "hot spots" in the iduronate-2-sulfatase gene.
8940265
1996
×
Entrez Id:
3423
Gene Symbol:
IDS
IDS
Mucopolysaccharidosis II
1.000
GeneticVariation
UNIPROT
Detection of four novel mutations in the iduronate-2-sulphatase gene by single-strand conformation polymorphism analysis of genomic amplicons.
8830188
1996
×
Entrez Id:
3423
Gene Symbol:
IDS
IDS
Mucopolysaccharidosis II
1.000
GeneticVariation
UNIPROT
Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome .
8566953
1996
×
Entrez Id:
3423
Gene Symbol:
IDS
IDS
Mucopolysaccharidosis II
1.000
GeneticVariation
UNIPROT
Mutation analysis in 20 patients with Hunter disease.
8664909
1996
×
Entrez Id:
3423
Gene Symbol:
IDS
IDS
Mucopolysaccharidosis II
1.000
Biomarker
CLINGEN
Mucopolysaccharidosis type II (Hunter syndrome ): mutation "hot spots" in the iduronate-2-sulfatase gene.
8940265
1996
×
Entrez Id:
3423
Gene Symbol:
IDS
IDS
Mucopolysaccharidosis II
1.000
GeneticVariation
UNIPROT
Molecular analysis in 23 Hunter disease families.
9266380
1997
×
Entrez Id:
3423
Gene Symbol:
IDS
IDS
Mucopolysaccharidosis II
1.000
GeneticVariation
UNIPROT
In a sequence analysis of the iduronate-2-sulfatase gene, evidence was obtained for the R468Q (G1403 to A) mutation, a common one in Hunter disease .
9375851
1997
×
Entrez Id:
3423
Gene Symbol:
IDS
IDS
Mucopolysaccharidosis II
1.000
GeneticVariation
UNIPROT
Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients.
9222763
1997
×
Entrez Id:
3423
Gene Symbol:
IDS
IDS
Mucopolysaccharidosis II
1.000
GeneticVariation
UNIPROT
Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter disease .
9452044
1998
×
Entrez Id:
3423
Gene Symbol:
IDS
IDS
Mucopolysaccharidosis II
1.000
GeneticVariation
UNIPROT
Hunter disease (mucopolysaccharidosis type II or MPS II ) is an X-linked recessive disorder caused by the deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS ) (E.C.3.1.6.13.) involved in the catabolism of mucopolysaccharides dermatan sulfate and heparan sulfate.
10215411
1998
×
Entrez Id:
3423
Gene Symbol:
IDS
IDS
Mucopolysaccharidosis II
1.000
GeneticVariation
UNIPROT
We have performed a molecular and mutation analysis of a total 19 unrelated MPS II patients of different ethnic origin and identified 19 different IDS mutations, 9 of which were novel and unique.
10671065
1998
×
Entrez Id:
3423
Gene Symbol:
IDS
IDS
Mucopolysaccharidosis II
1.000
GeneticVariation
UNIPROT
Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease ).
9875019
1998
×
Entrez Id:
3423
Gene Symbol:
IDS
IDS
Mucopolysaccharidosis II
1.000
GeneticVariation
UNIPROT
Hunter disease in the Spanish population: molecular analysis in 31 families.
9762601
1998