A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease. (Q54657086)

2 June 2018

title

A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease. (English)

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2 June 2018

2

Mark Tarnopolsky

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2 June 2018

Q123494386

series ordinal

3

object named as

Georgirene D Vladutiu

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2 June 2018

author name string

Paul J Isackson

series ordinal

1

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2 June 2018

publication date

7 April 2005

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2 June 2018

Molecular Genetics and Metabolism

published in

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2 June 2018

volume

85

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2 June 2018

issue

3

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2 June 2018

page(s)

239-242

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2 June 2018

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

cites work

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.03.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.03.002

Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.03.002

The molecular diagnosis of metabolic myopathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.03.002

A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.03.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.03.002

Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.03.002

Treatment of McArdle disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.03.002

Concomitant branching enzyme and phosphorylase deficiencies. An unusual glycogenosis with extensive neuronal polyglucosan storage

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.03.002

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2005.03.002

1 reference

2 June 2018

release_oycn2mjp4jcwzabkahofzc6lhe

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/oycn2mjp4jcwzabkahofzc6lhe

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

2 June 2018