Mucopolysaccharidosis IVA: A novel splice acceptor site mutation in intron 4 of theN-acetylgalactosamine-6-sulfate sulfatase gene in an afghanistan girl with classical morquio disease (Q73681656)

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scientific article published on 01 June 1997

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English	Mucopolysaccharidosis IVA: A novel splice acceptor site mutation in intron 4 of theN-acetylgalactosamine-6-sulfate sulfatase gene in an afghanistan girl with classical morquio disease	scientific article published on 01 June 1997

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5 November 2019

Mucopolysaccharidosis IVA: a novel splice acceptor site mutation in intron 4 of the N-acetylgalactosamine-6-sulfate sulfatase gene in an Afghanistan girl with classical Morquio disease (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9290256%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Mucopolysaccharidosis IVA: A novel splice acceptor site mutation in intron 4 of theN-acetylgalactosamine-6-sulfate sulfatase gene in an afghanistan girl with classical morquio disease (English)

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10.1007/BF02766953

https://api.crossref.org/works/10.1007/BF02766953

15 November 2024

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Adriana M Montaño

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A. M. Montaño

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15 November 2024

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S. Fukuda

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15 November 2024

N. Yamada

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15 November 2024

S. Tomatsu

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15 November 2024

K. Sukegawa

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J. J. Hopwood

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V. Muller

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T. Orii

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N. Kondo

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National Center for Biotechnology Information

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15 November 2024

publication date

1 June 1997

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5 November 2019

June 1997

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15 November 2024

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https://www.nature.com/articles/jhg199717.pdf

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15 November 2024

http://www.nature.com/articles/jhg199717.pdf

Portable Document Format

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10.1007/BF02766953

https://api.crossref.org/works/10.1007/BF02766953

15 November 2024

http://www.nature.com/articles/jhg199717

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10.1007/BF02766953

https://api.crossref.org/works/10.1007/BF02766953

15 November 2024

http://www.springerlink.com/index/pdf/10.1007/BF02766953

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10.1007/BF02766953

https://api.crossref.org/works/10.1007/BF02766953

15 November 2024

Japanese Journal of Human Genetics

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9290256%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

42

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5 November 2019

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5 November 2019

317-322

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5 November 2019

Mucopolysaccharidosis IVA: a comparative study of polymorphic DNA haplotypes in the Caucasian and Japanese populations

1 reference

9 November 2024

https://opencitations.net/index/api/v1/citations/10.1007/BF01799258

Heterogeneity of Morquio disease.

1

1 reference

10.1007/BF02766953

https://api.crossref.org/works/10.1007/BF02766953

15 November 2024

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

3

1 reference

10.1007/BF02766953

https://api.crossref.org/works/10.1007/BF02766953

15 November 2024

Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease

4

1 reference

10.1007/BF02766953

https://api.crossref.org/works/10.1007/BF02766953

15 November 2024

Mucopolysaccharidosis IVA (Morquio A): three novel small deletions in the N-acetylgalactosamine-6-sulfate sulfatase gene

5

1 reference

10.1007/BF02766953

https://api.crossref.org/works/10.1007/BF02766953

15 November 2024

Mild manifestations of the Morquio syndrome

7

1 reference

10.1007/BF02766953

https://api.crossref.org/works/10.1007/BF02766953

15 November 2024

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

8

1 reference

10.1007/BF02766953

https://api.crossref.org/works/10.1007/BF02766953

15 November 2024

Biochemical and Biophysical Research Communications

10

61

709

author name string

R Matalon

publication date

1974

1 reference

10.1007/BF02766953

https://api.crossref.org/works/10.1007/BF02766953

15 November 2024

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

12

1 reference

10.1007/BF02766953

https://api.crossref.org/works/10.1007/BF02766953

15 November 2024

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

13

1 reference

10.1007/BF02766953

https://api.crossref.org/works/10.1007/BF02766953

15 November 2024

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

16

1 reference

10.1007/BF02766953

https://api.crossref.org/works/10.1007/BF02766953

15 November 2024

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

17

1 reference

10.1007/BF02766953

https://api.crossref.org/works/10.1007/BF02766953

15 November 2024

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

18

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10.1007/BF02766953

https://api.crossref.org/works/10.1007/BF02766953

15 November 2024

Molecular analysis by Southern blot for the N-acetylgalactosamine-6-sulphate sulphatase gene causing mucopolysaccharidosis IVA in the Japanese population

19

1 reference

10.1007/BF02766953

https://api.crossref.org/works/10.1007/BF02766953

15 November 2024

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

20

1 reference

10.1007/BF02766953

https://api.crossref.org/works/10.1007/BF02766953

15 November 2024

Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease)

22

1 reference

10.1007/BF02766953

https://api.crossref.org/works/10.1007/BF02766953

15 November 2024

Identifiers

10.1007/BF02766953

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9290256%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9290256%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

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