Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency (Q24676213)

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16 October 2019

title

Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency (English)

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16 October 2019

author name string

Tomatsu S

1

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16 October 2019

Fukuda S

2

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16 October 2019

Yamagishi A

3

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Cooper A

4

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Wraith JF

5

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Hori T

6

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Kato Z

7

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Yamada N

8

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Isogai K

9

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Sukegawa K

10

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Kondo N

11

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Suzuki Y

12

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Shimozawa N

13

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Orii T

14

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language of work or name

English

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publication date

1 May 1996

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American Journal of Human Genetics

16 October 2019

published in

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volume

58

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issue

5

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16 October 2019

page(s)

950-962

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

16 October 2019

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

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Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

7 April 2017

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

7 April 2017

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

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7 April 2017

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

7 April 2017

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7 April 2017

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12 December 2020

Residual activity in fibroblasts from two brothers with the late-onset form of N-acetylgalactosamine-6-sulphate sulphatase deficiency

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Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus and their relation to phenotype in Swedish phenylketonuria families

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XhoI and SphI RFLPs in the GALNS gene

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12 December 2020

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

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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

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12 December 2020

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12 December 2020

Identifiers

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16 October 2019

PubMed publication ID

8651279

1 reference