Polymorphisms in Tunisian patients with N-acetylgalactosamine-6-sulfate sulfatase gene deficiency: implication in Morquio A disease (Q34556008)

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English	Polymorphisms in Tunisian patients with N-acetylgalactosamine-6-sulfate sulfatase gene deficiency: implication in Morquio A disease	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

21251309

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3 August 2017

title

Polymorphisms in Tunisian patients with N-acetylgalactosamine-6-sulfate sulfatase gene deficiency: implication in Morquio A disease (English)

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stated in

Europe PubMed Central

PubMed publication ID

21251309

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3 August 2017

author name string

Souhir Khedhiri

series ordinal

1

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Europe PubMed Central

PubMed publication ID

21251309

retrieved

3 August 2017

Latifa Chkioua

series ordinal

2

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stated in

Europe PubMed Central

PubMed publication ID

21251309

retrieved

3 August 2017

Salima Ferchichi

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

21251309

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3 August 2017

Abdelhedi Miled

series ordinal

4

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stated in

Europe PubMed Central

PubMed publication ID

21251309

retrieved

3 August 2017

Sandrine Laradi

series ordinal

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

21251309

retrieved

3 August 2017

publication date

20 January 2011

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stated in

Europe PubMed Central

PubMed publication ID

21251309

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3 August 2017

published in

Diagnostic Pathology

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Europe PubMed Central

PubMed publication ID

21251309

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3 August 2017

volume

6

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Europe PubMed Central

PubMed publication ID

21251309

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3 August 2017

page(s)

11

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Europe PubMed Central

PubMed publication ID

21251309

retrieved

3 August 2017

copyright license

Creative Commons Attribution 2.0 Generic

start time

20 January 2011

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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April 2022 Public Data File from Crossref

cites work

Mucopolysaccharidoses type I and IVA: clinical features and consanguinity in Tunisia

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3034659

retrieved

7 July 2018

Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3034659

retrieved

7 July 2018

Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3034659

retrieved

7 July 2018

The morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3034659

retrieved

7 July 2018

Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3034659

retrieved

7 July 2018

Morquio's syndrome: deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3034659

retrieved

7 July 2018

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3034659

retrieved

7 July 2018

Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3034659

retrieved

27 October 2018

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/21251309

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/21251309

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/21251309

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/21251309

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

XhoI and SphI RFLPs in the GALNS gene

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/21251309

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Consanguinity: implications for practice, research, and policy

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/21251309

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1186/1746-1596-6-11

1 reference

stated in

Europe PubMed Central

PubMed publication ID

21251309

retrieved

3 August 2017

Dimensions Publication ID

1012195391

0 references

PMC publication ID

3034659

1 reference

stated in

Europe PubMed Central

PubMed publication ID

21251309

retrieved

3 August 2017

PubMed publication ID

21251309

1 reference

stated in

Europe PubMed Central

PubMed publication ID

21251309

retrieved

3 August 2017

ResearchGate publication ID

49770946

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