(Q72781731)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7951262%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

title

An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease) (English)

1 reference

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29 October 2019

author name string

Tsujino S

1

1 reference

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29 October 2019

Rubin LA

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7951262%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

Shanske S

3

1 reference

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29 October 2019

DiMauro S

4

1 reference

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29 October 2019

publication date

1 January 1994

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29 October 2019

1 reference

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29 October 2019

volume

4

1 reference

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29 October 2019

issue

1

1 reference

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29 October 2019

page(s)

73-75

1 reference

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

29 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040113

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040113

7 January 2021

A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040113

7 January 2021

Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040113

7 January 2021

A new beta-thalassemia mutation (initiation codon ATG----GTG) found in the Japanese population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040113

7 January 2021

An initiation codon mutation as a cause of a beta-thalassemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040113

7 January 2021

High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040113

7 January 2021

A FUNCTIONAL DISORDER OF MUSCLE ASSOCIATED WITH THE ABSENCE OF PHOSPHORYLASE.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040113

7 January 2021

A novel beta-thalassemia mutation (G-->A) at the initiation codon of the beta-globin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040113

7 January 2021

Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040113

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040113

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040113

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380040113

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7951262%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference