(Q28249816)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8111411%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

review article

1 reference

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8111411%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

author

Charles Phillip Morris

3

1 reference

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25 October 2019

author name string

Hopwood JJ

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8111411%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Bunge S

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8111411%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Wilson PJ

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8111411%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Steglich C

5

1 reference

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25 October 2019

Beck M

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8111411%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Schwinger E

7

1 reference

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25 October 2019

Gal A

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8111411%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

language of work or name

English

0 references

publication date

1 January 1993

1 reference

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25 October 2019

1 reference

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25 October 2019

volume

2

1 reference

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25 October 2019

issue

6

1 reference

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25 October 2019

page(s)

435-442

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8111411%20AND%20SRC:MED&resulttype=core&format=json

Human liver iduronate-2-sulphatase. Purification, characterization and catalytic properties

25 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020603

Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020603

7 January 2021

Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020603

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020603

7 January 2021

Detection of point mutations and a gross deletion in six Hunter Syndrome patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020603

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020603

7 January 2021

Lysosomal degradation of heparin and heparan sulphate.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020603

7 January 2021

Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020603

7 January 2021

The iduronate sulfatase gene: Isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020603

7 January 2021

Contiguous gene syndromes: a component of recognizable syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020603

7 January 2021

Molecular analysis in patients with mucopolysaccharidosis type II suggests that DXS466 maps within the Hunter gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020603

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020603

7 January 2021

Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020603

7 January 2021

Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020603

7 January 2021

Structural gene aberrations in mucopolysaccharidosis II (Hunter)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020603

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020603

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020603

7 January 2021

Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020603

7 January 2021

The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020603

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020603

7 January 2021