(Q52208872)

English

Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation

scientific article published on April 30, 1995

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scholarly article

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Europe PubMed Central

PubMed publication ID

27 April 2018

http://europepmc.org/abstract/MED/7664468

Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation (English)

1 reference

10.1016/0009-8981(95)06044-X

https://api.crossref.org/works/10.1016/0009-8981(95)06044-X

30 July 2024

sequence deletion

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7664468

30 July 2024

author name string

H. Sugie

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7664468

30 July 2024

Y. Sugie

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7664468

30 July 2024

M. Ito

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7664468

30 July 2024

T. Fukuda

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7664468

30 July 2024

I. Nonaka

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7664468

30 July 2024

Y. Igarashi

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7664468

30 July 2024

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7664468

30 July 2024

publication date

1 April 1995

1 reference

Europe PubMed Central

PubMed publication ID

27 April 2018

http://europepmc.org/abstract/MED/7664468

30 April 1995

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7664468

30 July 2024

full work available at URL

https://api.elsevier.com/content/article/PII:000989819506044X?httpAccept=text/xml

1 reference

10.1016/0009-8981(95)06044-X

https://api.crossref.org/works/10.1016/0009-8981(95)06044-X

30 July 2024

https://api.elsevier.com/content/article/PII:000989819506044X?httpAccept=text/plain

1 reference

10.1016/0009-8981(95)06044-X

https://api.crossref.org/works/10.1016/0009-8981(95)06044-X

30 July 2024

Clinica Chimica Acta

1 reference

Europe PubMed Central

PubMed publication ID

27 April 2018

http://europepmc.org/abstract/MED/7664468

236

1 reference

Europe PubMed Central

PubMed publication ID

27 April 2018

http://europepmc.org/abstract/MED/7664468

1

1 reference

Europe PubMed Central

PubMed publication ID

27 April 2018

http://europepmc.org/abstract/MED/7664468

81-86

1 reference

Europe PubMed Central

PubMed publication ID

27 April 2018

http://europepmc.org/abstract/MED/7664468

Fatal infantile form of muscle phosphorylase deficiency

1

1 reference

10.1016/0009-8981(95)06044-X

https://api.crossref.org/works/10.1016/0009-8981(95)06044-X

30 July 2024

Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase

3

1 reference

10.1016/0009-8981(95)06044-X

https://api.crossref.org/works/10.1016/0009-8981(95)06044-X

30 July 2024

Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease)

4

1 reference

10.1016/0009-8981(95)06044-X

https://api.crossref.org/works/10.1016/0009-8981(95)06044-X

30 July 2024

McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases

5

1 reference

10.1016/0009-8981(95)06044-X

https://api.crossref.org/works/10.1016/0009-8981(95)06044-X

30 July 2024

Three new mutations in patients with myophosphorylase deficiency (McArdle disease)

6

1 reference

10.1016/0009-8981(95)06044-X

https://api.crossref.org/works/10.1016/0009-8981(95)06044-X

30 July 2024

Infantile muscle glycogen storage disease: phosphoglucomutase deficiency with decreased muscle and serum carnitine levels

7

1 reference

10.1016/0009-8981(95)06044-X

https://api.crossref.org/works/10.1016/0009-8981(95)06044-X

30 July 2024

A new variant of late-onset myophosphorylase deficiency

8

1 reference

10.1016/0009-8981(95)06044-X

https://api.crossref.org/works/10.1016/0009-8981(95)06044-X

30 July 2024

Molecular heterogeneity in McArdle's disease

9

1 reference

10.1016/0009-8981(95)06044-X

https://api.crossref.org/works/10.1016/0009-8981(95)06044-X

30 July 2024

Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease

10

1 reference

10.1016/0009-8981(95)06044-X

https://api.crossref.org/works/10.1016/0009-8981(95)06044-X

30 July 2024

Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients

11

1 reference

10.1016/0009-8981(95)06044-X

https://api.crossref.org/works/10.1016/0009-8981(95)06044-X

30 July 2024

Identifiers

10.1016/0009-8981(95)06044-X

1 reference

Europe PubMed Central

PubMed publication ID

27 April 2018

http://europepmc.org/abstract/MED/7664468

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

27 April 2018

http://europepmc.org/abstract/MED/7664468

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