(Q35571022)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9950361%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

title

Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9950361%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

author name string

Li P

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9950361%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Bellows AB

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9950361%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Thompson JN

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9950361%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

language of work or name

English

0 references

publication date

1 January 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9950361%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

10 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9950361%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

volume

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9950361%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9950361%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

page(s)

21-27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9950361%20AND%20SRC:MED&resulttype=core&format=json

Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene

10 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762941

130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762941

Identification of an alternative transcript from the human iduronate-2-sulfatase (IDS) gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762941

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762941

Sequence of the human iduronate 2-sulfatase (IDS) gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762941

Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762941

Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762941

Mutation analysis of Jewish Hunter patients in Israel

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762941

CpNpG methylation in mammalian cells

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762941

Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762941

Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762941

A clinical and genetic study of Hunter's syndrome. 2. Differences between the mild and severe forms.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762941

A clinical and genetic study of Hunter's syndrome. 1. Heterogeneity

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762941

The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762941

Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762941

Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762941

Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762941

Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene

26 September 2018

1 reference

12 December 2020

An assay for iduronate sulfatase (Hunter corrective factor)

1 reference

12 December 2020

Novel use of limited primer extension in detecting mutations in human iduronate 2-sulfatase gene

1 reference

12 December 2020

Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome)

1 reference

12 December 2020

Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families

1 reference

12 December 2020

Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome

1 reference

12 December 2020

IDS gene-pseudogene exchange responsible for an intragenic deletion in a Hunter patient

1 reference

12 December 2020

Detection of four novel mutations in the iduronate-2-sulphatase gene by single-strand conformation polymorphism analysis of genomic amplicons

1 reference

12 December 2020

Biochemical and molecular analysis in a patient with the severe form of Hunter syndrome after bone marrow transplantation

1 reference

12 December 2020

The human gene mutation database

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9950361%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

PubMed publication ID

9950361

1 reference