(Q28290749)

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

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

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author name string

K Sukegawa

1

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S Tomatsu

2

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T Fukao

3

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H Iwata

4

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X Q Song

5

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Y Yamada

6

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S Fukuda

7

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K Isogai

8

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T Orii

9

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language of work or name

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publication date

1995

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6

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136-43

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2

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

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https://api.crossref.org/works/10.1002%2FHUMU.1380060206

21 January 2018

Recombinant human iduronate-2-sulphatase: correction of mucopolysaccharidosis-type II fibroblasts and characterization of the purified enzyme

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https://api.crossref.org/works/10.1002%2FHUMU.1380060206

21 January 2018

The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase

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https://api.crossref.org/works/10.1002%2FHUMU.1380060206

7 January 2021

based on heuristic

inferred from DOI database lookup

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.1380060206

7 January 2021

based on heuristic

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

1 reference

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7 January 2021

based on heuristic

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

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7 January 2021

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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.1380060206

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060206

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060206

7 January 2021

based on heuristic

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Hunter syndrome: gene deletions and rearrangements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060206

7 January 2021

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An 8-bp deletion in exon B of the iduronate-2-sulphate sulphatase gene in a case of Hunter disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060206

7 January 2021

based on heuristic

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

1 reference

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7 January 2021

based on heuristic

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Efficient selection for high-expression transfectants with a novel eukaryotic vector

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060206

7 January 2021

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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.1380060206

7 January 2021

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DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060206

7 January 2021

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Hunter's syndrome: a deficiency of L-idurono-sulfate sulfatase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060206

7 January 2021

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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.1380060206

7 January 2021

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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.1380060206

7 January 2021

based on heuristic

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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.1380060206

7 January 2021

based on heuristic

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Structural gene aberrations in mucopolysaccharidosis II (Hunter)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060206

7 January 2021

based on heuristic

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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

https://api.crossref.org/works/10.1002%2FHUMU.1380060206

7 January 2021

based on heuristic

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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.1380060206

7 January 2021

based on heuristic

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Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060206

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060206

7 January 2021

based on heuristic

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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.1380060206

7 January 2021

based on heuristic

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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.1380060206

7 January 2021

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Identifiers

10.1002/HUMU.1380060206

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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