Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). (Q45345658)

13 December 2017

title

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

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13 December 2017

Shunji Tomatsu

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13 December 2017

Adriana M Montaño

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13 December 2017

Tatsuo Nishioka

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13 December 2017

Monica A Gutierrez

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13 December 2017

Olga M Peña

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13 December 2017

Georgeta G Tranda Firescu

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13 December 2017

Patricia Lopez

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13 December 2017

Seiji Yamaguchi

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13 December 2017

Akihiko Noguchi

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13 December 2017

Tadao Orii

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13 December 2017

publication date

1 December 2005

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13 December 2017

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13 December 2017

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13 December 2017

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13 December 2017

page(s)

500-512

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Impaired degradation of keratan sulphate by Morquio A fibroblasts

13 December 2017

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Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: Mucopolysaccharidosis IVB

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Structure of a human lysosomal sulfatase

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

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The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme

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7 January 2021

The enzymic defects in Morquio and Maroteaux-Lamy syndrome

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

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7 January 2021

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

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7 January 2021

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

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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

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A sensitive procedure for the diagnosis of N-acetyl-galactosamine-6-sulfate sulfatase deficiency in classical Morquio's disease

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

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

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7 January 2021

A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA

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Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes

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An update on the frequency of mucopolysaccharide syndromes in British Columbia

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N-Acetylgalactosamine-6-Sulfate Sulfatase in Human Placenta: Purification and Characteristics1

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Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24

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Prevalence of lysosomal storage disorders

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The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5'-flanking region.

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Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype

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7 January 2021

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

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7 January 2021

Incidence of the mucopolysaccharidoses in Northern Ireland

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7 January 2021

Incidence of the mucopolysaccharidoses in Western Australia

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7 January 2021

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

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7 January 2021

Prevalence of lysosomal storage diseases in Portugal

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7 January 2021

Association of N-acetylgalactosamine-6-sulfate sulfatase with the multienzyme lysosomal complex of beta-galactosidase, cathepsin A, and neuraminidase. Possible implication for intralysosomal catabolism of keratan sulfate

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7 January 2021

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7 January 2021

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7 January 2021

Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase

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7 January 2021

A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency

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7 January 2021

Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes

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7 January 2021

Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene

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7 January 2021

Various cells retrovirally transduced with N-acetylgalactosoamine-6-sulfate sulfatase correct Morquio skin fibroblasts in vitro

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene

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7 January 2021

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

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7 January 2021

Methylation patterns of the human beta-glucuronidase gene locus: boundaries of methylation and general implications for frequent point mutations at CpG dinucleotides

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7 January 2021

Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease

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7 January 2021

Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.

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7 January 2021

General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus

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7 January 2021

Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene

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7 January 2021

Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients

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https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.

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https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Combined Adenine Phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate Sulfatase Deficiency

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https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Identifiers

DOI

10.1002/HUMU.20257

1 reference

13 December 2017

1 reference