Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate. (Q45017396)

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31 December 2019

title

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

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9

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5

Roberto Giugliani

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author name string

Shunji Tomatsu

1

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Tatiana Dieter

2

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Ida V Schwartz

3

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Piedad Sarmient

4

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Luis A Barrera

6

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Norberto Guelbert

7

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Raquel Kremer

8

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Monica A Gutierrez

10

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Tatsuo Nishioka

11

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Olga Peña Serrato

12

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Adriana Maria Montaño

13

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Seiji Yamaguchi

14

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Akihiko Noguchi

15

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publication date

11 August 2004

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Journal of Human Genetics

31 December 2019

published in

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volume

49

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issue

9

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page(s)

490-494

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https://scigraph.springernature.com/pub.10.1007/s10038-004-0178-8

31 December 2019

exact match

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cites work

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S10038-004-0178-8

Identifiers

DOI

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Dimensions Publication ID

31 December 2019

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