(Q48074595)

8 February 2018

title

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

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

mucopolysaccharidosis type IVA

12 June 2024

main subject

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7607677

12 June 2024

2

S. Tomatsu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7607677

12 June 2024

author name string

T. Hori

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7607677

12 June 2024

Y. Nakashima

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7607677

12 June 2024

A. Uchiyama

4

1 reference

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12 June 2024

S. Fukuda

5

1 reference

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12 June 2024

K. Sukegawa

6

1 reference

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12 June 2024

N. Shimozawa

7

1 reference

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12 June 2024

Y. Suzuki

8

1 reference

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12 June 2024

N. Kondo

9

1 reference

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12 June 2024

T. Horiuchi

10

1 reference

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12 June 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7607677

12 June 2024

publication date

1 April 1995

1 reference

8 February 2018

10 April 1995

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7607677

full work available at URL

12 June 2024

https://api.elsevier.com/content/article/PII:088875439580172I?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

https://api.elsevier.com/content/article/PII:088875439580172I?httpAccept=text/plain

12 June 2024

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

12 June 2024

1 reference

8 February 2018

volume

26

1 reference

8 February 2018

issue

3

1 reference

8 February 2018

page(s)

535-542

1 reference

8 February 2018

Copy choice illegitimate DNA recombination

cites work

1 reference

11 February 2024

https://opencitations.net/index/api/v1/citations/10.1016/0092-8674(88)90430-8

On the formation of spontaneous deletions: The importance of short sequence homologies in the generation of large deletions

1

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

Identical 3250-bp deletion between two AluI repeats in the ADA genes of unrelated ADA-SCID patients

12 June 2024

3

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

Base sequence studies of 300 nucleotide renatured repeated human DNA clones

12 June 2024

5

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

Structural analysis of templates and RNA polymerase III transcripts of Alu family sequences interspersed among the human β-like globin genes

12 June 2024

6

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

The structure and evolution of the human beta-globin gene family

12 June 2024

7

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli

12 June 2024

8

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

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

12 June 2024

9

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

Isolated growth hormone (GH) deficiency type 1A associated with a double deletion in the human GH gene cluster

12 June 2024

10

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

Molecular analysis of deletions in the human beta-globin gene cluster: deletion junctions and locations of breakpoints

12 June 2024

11

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

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

12 June 2024

12

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

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

12 June 2024

13

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

Analysis of an inversion within the human beta globin gene cluster

12 June 2024

14

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

Deletions with inversions: report of a mutation and review of the literature.

12 June 2024

15

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

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

12 June 2024

17

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

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

12 June 2024

20

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

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

12 June 2024

21

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

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

12 June 2024

23

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

Recombination at the human alpha-globin gene cluster: sequence features and topological constraints

12 June 2024

24

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

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

12 June 2024

25

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

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

12 June 2024

28

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday

12 June 2024

29

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

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

12 June 2024

30

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

Molecular analysis by Southern blot for the N-acetylgalactosamine-6-sulphate sulphatase gene causing mucopolysaccharidosis IVA in the Japanese population

12 June 2024

32

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

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

12 June 2024

33

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

XhoI and SphI RFLPs in the GALNS gene

12 June 2024

34

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

Polymorphism in the GALNS gene

12 June 2024

35

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

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

12 June 2024

36

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

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

12 June 2024

37

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

Hot spots for growth hormone gene deletions in homologous regions outside of Alu repeats

12 June 2024

38

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

Nonhomologous recombination in the human genome: deletions in the human factor VIII gene

12 June 2024

39

1 reference

https://api.crossref.org/works/10.1016/0888-7543(95)80172-I

12 June 2024

Identifiers

1 reference

8 February 2018

1 reference

8 February 2018