(Q34556008)

3 August 2017

title

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

1 reference

3 August 2017

Souhir Khedhiri

1 reference

3 August 2017

Latifa Chkioua

1 reference

3 August 2017

Salima Ferchichi

1 reference

3 August 2017

Abdelhedi Miled

1 reference

3 August 2017

Sandrine Laradi

1 reference

3 August 2017

publication date

20 January 2011

1 reference

3 August 2017

1 reference

3 August 2017

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3 August 2017

1 reference

Creative Commons Attribution 2.0 Generic

3 August 2017

start time

20 January 2011

1 reference

April 2022 Public Data File from Crossref

copyrighted

1 reference

April 2022 Public Data File from Crossref

cites work

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

1 reference

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

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

7 July 2018

1 reference

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

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

7 July 2018

1 reference

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

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

7 July 2018

1 reference

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

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

7 July 2018

1 reference

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

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

7 July 2018

1 reference

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

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

7 July 2018

1 reference

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

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

7 July 2018

1 reference

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

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

27 October 2018

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

XhoI and SphI RFLPs in the GALNS gene

1 reference

12 December 2020

Consanguinity: implications for practice, research, and policy

1 reference

12 December 2020

Identifiers

DOI

10.1186/1746-1596-6-11

1 reference

Dimensions Publication ID

3 August 2017

0 references

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3 August 2017

1 reference