(Q72131289)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705830%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705830%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

author name string

S Tomatsu

1

1 reference

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24 October 2019

S Fukuda

2

1 reference

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24 October 2019

A Cooper

3

1 reference

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24 October 2019

J E Wraith

4

1 reference

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24 October 2019

A Uchiyama

5

1 reference

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24 October 2019

T Hori

6

1 reference

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24 October 2019

Y Nakashima

7

1 reference

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24 October 2019

N Yamada

8

1 reference

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24 October 2019

K Sukegawa

9

1 reference

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24 October 2019

N Kondo

10

1 reference

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24 October 2019

publication date

1 April 1995

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24 October 2019

1 reference

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24 October 2019

volume

95

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24 October 2019

issue

4

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24 October 2019

page(s)

376-381

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https://scigraph.springernature.com/pub.10.1007/bf00208958

24 October 2019

exact match

0 references

cites work

Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains

1 reference

12 December 2020

Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA

1 reference

12 December 2020

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

1 reference

12 December 2020

Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families

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

A deletion involving Alu sequences in the beta-hexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease

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

XhoI and SphI RFLPs in the GALNS gene

1 reference

12 December 2020

The iduronate sulfatase gene: Isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

The mucopolysaccharidoses. Diagnosis, molecular genetics and treatment.

1 reference

12 December 2020

Deficiencies of glucosamine-6-sulfate or galactosamine-6-sulfate sulfatases are responsible for different mucopolysaccharidoses

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

1 reference

12 December 2020

Unexpected relationships between four large deletions in the human beta-globin gene cluster.

1 reference

12 December 2020

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

1 reference

12 December 2020

Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH)

1 reference

12 December 2020

Polymorphism in the GALNS gene

1 reference

12 December 2020

Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements

1 reference

12 December 2020

A gene deletion ending within a complex array of repeated sequences 3' to the human beta-globin gene cluster

1 reference

12 December 2020

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

1 reference

12 December 2020

The deletion in a type of δ0-β0-thalassaemia begins in an inverted AluI repeat

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00208958

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705830%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference