|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Hunter syndrome (Mucopolysaccharidosis type II) is a rare X-linked recessive lysosomal storage disorder caused by the deficiency of the enzyme iduronate-2-sulfatase (IDS).
|
12794697 |
2003 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We sequenced genomic DNA and RT-PCR products in the iduronate sulfatase (IDS) gene in 6 unrelated patients with Hunter syndrome to assess genotype/phenotype relationships and offer carrier testing where required.
|
10220152 |
1999 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with mucopolysaccharidosis type II (MPS II) lack iduronate-2-sulfatase (IDS), and serial PBL gene therapy may benefit these patients.
|
10220258 |
1999 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular investigations of iduronate-2-sulfatase (IDS) mutants for the X-linked lysosomal storage disease mucopolysaccharidosis type II (MPS II, Hunter disease), commonly depends on transient expression studies to verify a single nucleotide change to be pathogenic.
|
18331837 |
2008 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type II (Hunter syndrome) is an X linked lysosomal storage disorder resulting from heterogeneous mutations in the iduronate-2-sulphatase (IDS) gene.
|
9950361 |
1999 |
|
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 |
BEFREE |
Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing.
|
21829674 |
2011 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hunter syndrome (or mucopolysaccharidosis type II, MPS II) is an X-linked recessive disorder induced by a deficiency of the iduronate 2-sulfatase (IDS) enzyme, resulting in the accumulation of glycosaminoglycan substrates, heparan sulfate and dermatan sulfate, in the lysosomes.
|
28588666 |
2017 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Calnexin promotes the folding of mutant iduronate 2-sulfatase related to mucopolysaccharidosis type II.
|
31029429 |
2019 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding the enzyme iduronate-2-sulfatase (IDS) were reported as the cause of the X-linked recessive lysosomal disease, mucopolysaccharidosis II (MPS II).
|
16699754 |
2006 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: characterisation of 6 novel mutations. Mutation in brief no. 249. Online.
|
10447264 |
1999 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we show that this region is involved in a recombination event with the IDS gene in about 13% of patients with the Hunter syndrome.
|
7633410 |
1995 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Partial or complete deletions and large rearrangements have been extensively reported in the IDS gene as the basis of Hunter disease.
|
12579417 |
2003 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter disease.
|
9452044 |
1998 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome).
|
27896113 |
2014 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hunter syndrome (mucopolysaccharidosis type II, or MPS II) results from a deficiency of iduronate-2-sulfatase (IDS) activity due to a primary genetic defect in the X-chromosomal iduronate-2-sulfatase gene.
|
8870917 |
1996 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mucopolysaccharidosis type II (Hunter syndrome; OMIM 309900) is a rare X-linked recessive lysosomal storage disorder caused by the deficiency of the enzyme iduronate-2-sulfatase (IDS; EC 3.1.6.13).
|
11731225 |
2001 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (mucopolysaccharidosis Type II) patients. Mutations in brief no. 202. Online.
|
10671065 |
1998 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease).
|
9875019 |
1998 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the gene encoding the enzyme iduronate-2-sulfatase (IDS) were reported as the cause of the X-linked recessive lysosomal disease, mucopolysaccharidosis II (MPS II).
|
16699754 |
2006 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Hunter disease in the Spanish population: molecular analysis in 31 families.
|
9762601 |
1998 |
|
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 |