(Q48088411)

8 February 2018

title

Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform (English)

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8 February 2018

author name string

Schneider A

1

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8 February 2018

Davidson JJ

2

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8 February 2018

Wüllrich A

3

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8 February 2018

Kilimann MW

4

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8 February 2018

language of work or name

English

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publication date

1 December 1993

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8 February 2018

published in

Nature Genetics

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8 February 2018

volume

5

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8 February 2018

issue

4

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8 February 2018

page(s)

381-385

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8 February 2018

https://scigraph.springernature.com/pub.10.1038/ng1293-381

exact match

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cites work

Localisation of the gene encoding the catalytic gamma subunit of phosphorylase kinase to human chromosome bands 7p12-q21

1 reference

https://api.crossref.org/works/10.1038%2FNG1293-381

Glycogen storage disease type IX: Benign glycogenosis of liver and hepatic phosphorylase kinase deficiency

21 January 2018

1 reference

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7 January 2021

Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen-storage disease. A study of phosphorylase kinase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNG1293-381

7 January 2021

Hepatic phosphorylase b kinase deficiency with normal enzyme activity in leukocytes

1 reference

https://api.crossref.org/works/10.1038%2FNG1293-381

7 January 2021

Diagnosis of glycogen storage disease

1 reference

https://api.crossref.org/works/10.1038%2FNG1293-381

7 January 2021

Hepatic phosphorylase b kinase deficiency with normal enzyme activity in leukocytes and erythrocytes

1 reference

https://api.crossref.org/works/10.1038%2FNG1293-381

7 January 2021

Phosphorylase Kinase of the Liver: Deficiency in a Girl with Increased Hepatic Glycogen

1 reference

https://api.crossref.org/works/10.1038%2FNG1293-381

7 January 2021

The autosomal form of phosphorylase kinase defficiency in man: Reduced activity of the muscle enzyme

1 reference

https://api.crossref.org/works/10.1038%2FNG1293-381

7 January 2021

A new variant of glycogen storage disease. Type IXc

1 reference

https://api.crossref.org/works/10.1038%2FNG1293-381

7 January 2021

Phosphorylase b kinase deficiency in a boy with glycogenosis affecting both liver and muscle

1 reference

https://api.crossref.org/works/10.1038%2FNG1293-381

7 January 2021

Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNG1293-381

7 January 2021

Adult phosphorylase b kinase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNG1293-381

7 January 2021

Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: a new type of glycogen storage disease

1 reference

https://api.crossref.org/works/10.1038%2FNG1293-381

7 January 2021

Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNG1293-381

7 January 2021

Muscle and liver glycogen levels in lean and obese strains of mice

1 reference

https://api.crossref.org/works/10.1038%2FNG1293-381

7 January 2021

The X-chromosome and the enzymes controlling muscle glycogen: Phosphorylase kinase

1 reference

https://api.crossref.org/works/10.1038%2FNG1293-381

7 January 2021

X-linked dominant inheritance of partial phosphorylase kinase deficiency in mice

1 reference

https://api.crossref.org/works/10.1038%2FNG1293-381

7 January 2021

Glycogen-storage disease in rats, a genetically determined deficiency of liver phosphorylase kinase

1 reference

https://api.crossref.org/works/10.1038%2FNG1293-381

7 January 2021

cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis

1 reference

https://api.crossref.org/works/10.1038%2FNG1293-381

7 January 2021

Isolation of cDNA clones for the catalytic gamma subunit of mouse muscle phosphorylase kinase: expression of mRNA in normal and mutant Phk mice

1 reference

https://api.crossref.org/works/10.1038%2FNG1293-381

7 January 2021

Mapping of the phosphorylase kinase alpha subunit gene on the mouse X chromosome

1 reference

https://api.crossref.org/works/10.1038%2FNG1293-381

7 January 2021

Location of phosphorylase kinase (Phk) in the mouse X chromosome

1 reference

https://api.crossref.org/works/10.1038%2FNG1293-381

7 January 2021

I/Lyn mouse phosphorylase kinase deficiency: mutation disrupts expression of the alpha/alpha'-subunit mRNAs

1 reference

https://api.crossref.org/works/10.1038%2FNG1293-381

7 January 2021

cDNA cloning and complete primary structure of skeletal muscle phosphorylase kinase (alpha subunit)

1 reference

https://api.crossref.org/works/10.1038%2FNG1293-381

7 January 2021

Heterogeneous expression of protein and mRNA in pyruvate dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNG1293-381

7 January 2021

The alpha and beta subunits of phosphorylase kinase are homologous: cDNA cloning and primary structure of the beta subunit

1 reference

https://api.crossref.org/works/10.1038%2FNG1293-381

7 January 2021

Identifiers

DOI

10.1038/NG1293-381

1 reference

8 February 2018

1 reference

8 February 2018