(Q71523678)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8803772%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

title

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

1 reference

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19 October 2019

author name string

G M Rezvi

1

1 reference

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19 October 2019

S Tomatsu

2

1 reference

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19 October 2019

S Fukuda

3

1 reference

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19 October 2019

A Yamagishi

4

1 reference

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19 October 2019

A Cooper

5

1 reference

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19 October 2019

J E Wraith

6

1 reference

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19 October 2019

H Iwata

7

1 reference

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19 October 2019

Z Kato

8

1 reference

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19 October 2019

N Yamada

9

1 reference

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19 October 2019

K Sukegawa

10

1 reference

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19 October 2019

N Shimozawa

11

1 reference

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19 October 2019

Y Suzuki

12

1 reference

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19 October 2019

N Kondo

13

1 reference

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19 October 2019

T Orii

14

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19 October 2019

publication date

1 January 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8803772%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

19 October 2019

published in

1 reference

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19 October 2019

volume

19

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19 October 2019

issue

3

1 reference

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19 October 2019

page(s)

301-308

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https://scigraph.springernature.com/pub.10.1007/bf01799258

19 October 2019

exact match

0 references

cites work

The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.

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

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

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

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

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

Mucopolysaccharidosis IVA: structural gene alterations identified by Southern blot analysis and identification of racial differences

1 reference

12 December 2020

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

1 reference

12 December 2020

XhoI and SphI RFLPs in the GALNS gene

1 reference

12 December 2020

The enzymic defect in Morquio's disease: The specificity of N-acetylhexosamine sulfatases

1 reference

12 December 2020

Biochemical defect of non-keratan-sulfate-excreting Morquio syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Heterogeneity of Morquio disease.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

N-acetylgalactosamine-6-sulfate sulfatase in man. Absence of the enzyme in Morquio disease

1 reference

12 December 2020

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

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

Identifiers

DOI

10.1007/BF01799258

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8803772%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

1 reference