|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Deletions of the IDS gene can include a conserved locus that is tightly linked to FRAXA, suggesting that deletion of nearby genes may contribute to the variable clinical severity noted in Hunter syndrome.
|
1901826 |
1991 |
|
Mucopolysaccharidosis II
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Assessment of iduronate-2-sulfatase mRNA expression in Hunter syndrome (mucopolysaccharidosis type II).
|
1283150 |
1992 |
|
Mucopolysaccharidosis II
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).
|
1303211 |
1992 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A cDNA clone containing the entire coding region of the human IDS gene, mapped in Xq28, has been used as molecular probe to study a patient with Hunter syndrome.
|
1355630 |
1992 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene.
|
1303177 |
1992 |
|
Mucopolysaccharidosis II
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
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 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
A recently isolated cDNA clone from the iduronate sulfatase (IDS) gene has been used both to seed a contig of overlapping yeast artificial chromosomes (YACs) and to investigate the molecular defect in patients with Hunter syndrome (MPS II).
|
1733863 |
1992 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
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 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).
|
1303211 |
1992 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
A total of 14 unrelated German patients with X-linked iduronate-2-sulfatase (IDS) deficiency (Hunter syndrome, MPS II) showing variable clinical manifestations was screened for structural gene aberrations by Southern analysis.
|
1352274 |
1992 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).
|
1303211 |
1992 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
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 |
|
Mucopolysaccharidosis II
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression.
|
1284597 |
1992 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).
|
8281149 |
1993 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
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 |
|
Mucopolysaccharidosis II
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Lymphoblastoid cell lines (LCLs) from patients with Hunter syndrome were transduced with L2SN and expressed high levels of IDS enzyme activity, 10- to 70-fold higher than normal human peripheral blood leukocytes or LCLs.
|
8265633 |
1993 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
Deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS; EC 3.1.6.13) results in the storage of the glycosaminoglycans heparan sulfate and dermatan sulfate, which leads to the lysosomal storage disorder mucopolysaccharidosis type II.
|
8244397 |
1993 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Southern blot analysis of the iduronate sulfatase (IDS) gene in 52 unrelated Japanese patients with mucopolysaccharidosis type II was carried out using a cDNA probe, and mutations in 13 patients (25%) were identified.
|
8370574 |
1993 |
|
Mucopolysaccharidosis II
|
1.000 |
CausalMutation
|
disease |
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 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).
|
8281149 |
1993 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II).
|
7981716 |
1994 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II).
|
7981716 |
1994 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of iduronate-2-sulphatase (IDS) gene mutations in patients with mucopolysaccharidosis type II (MPS II, Hunter syndrome) allows fast and reliable carrier detection and prenatal diagnosis.
|
7845883 |
1994 |