(Q74127615)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452036%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: diagnostic implications in Morquio disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452036%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

author name string

S Tomatsu

1

1 reference

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9 November 2019

S Fukuda

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452036%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

A Cooper

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452036%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

J E Wraith

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452036%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

A Yamagishi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452036%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Z Kato

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452036%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

N Yamada

7

1 reference

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9 November 2019

K Isogai

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452036%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

K Sukegawa

9

1 reference

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9 November 2019

Y Suzuki

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452036%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

N Shimozawa

11

1 reference

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9 November 2019

N Kondo

12

1 reference

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9 November 2019

T Orii

13

1 reference

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9 November 2019

publication date

1 January 1998

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9 November 2019

1 reference

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9 November 2019

volume

Suppl 1

1 reference

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9 November 2019

page(s)

S42-6

1 reference

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Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110115

7 January 2021

Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110115

7 January 2021

Mucopolysaccharidosis IVA: polymorphic haplotypes and informative RFLPs in the Japanese population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110115

7 January 2021

Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110115

7 January 2021

Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110115

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.1380110115

7 January 2021

A novel splice site mutation in intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110115

7 January 2021

Polymorphism in the GALNS gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110115

7 January 2021

Polymerase chain reaction detection of two novel human N-acetylgalactosamine-6-sulfate sulfatase gene polymorphisms by single-strand conformation polymorphism analysis or by StyI and StuI cleavages

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110115

7 January 2021

Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110115

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380110115

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452036%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference