(Q35260756)

7 August 2017

title

Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease) (English)

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7 August 2017

Vafiadaki E

1

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7 August 2017

Cooper A

2

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7 August 2017

Heptinstall LE

3

1 reference

7 August 2017

Hatton CE

4

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7 August 2017

Thornley M

5

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7 August 2017

Wraith JE

6

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7 August 2017

language of work or name

English

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publication date

1 September 1998

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Archives of Disease in Childhood

7 August 2017

published in

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7 August 2017

volume

79

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7 August 2017

issue

3

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7 August 2017

page(s)

237-241

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Mutation analysis in the iduronate‐2‐sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717680

Molecular and phenotypic variation in patients with severe 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=1717680

Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in 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=1717680

Mutation nomenclature: nicknames, systematic names, and unique identifiers

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717680

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=1717680

Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II)

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717680

Mucopolysaccharidosis type II (Hunter disease): Identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717680

The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--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=1717680

Frequent deletions at Xq28 indicate genetic heterogeneity in 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=1717680

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717680

Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (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=1717680

An assay for iduronate sulfatase (Hunter corrective factor)

12 July 2018

1 reference

12 December 2020

Full expression of Hunter's disease in a female with an X-chromosome deletion leading to non-random inactivation

1 reference

12 December 2020

Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene

1 reference

12 December 2020

Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28

1 reference

12 December 2020

Mutation analysis in 20 patients with Hunter disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1136/ADC.79.3.237

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7 August 2017

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7 August 2017

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