Autosomal Recessive Liver Phosphorylase Kinase Deficiency Caused by a Novel Splice-Site Mutation in the Gene Encoding the Liver Gamma Subunit (PHKG2)-Reference-Cited by-同舟云学术

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Autosomal Recessive Liver Phosphorylase Kinase Deficiency Caused by a Novel Splice-Site Mutation in the Gene Encoding the Liver Gamma Subunit (PHKG2)

Published:1997-07 Issue:3 Volume:236 Page:544-548
ISSN:0006-291X
Container-title:Biochemical and Biophysical Research Communications
language:en
Short-container-title:Biochemical and Biophysical Research Communications

Author:

van Beurden Ellen A.C.M.,de Graaf Michelle,Wendel Udo,Gitzelmann Richard,Berger Ruud,van den Berg Inge E.T.

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry,Biophysics

Reference21 articles.

1. C. A. Pickett-Gies, D. A. Walsh, 1986, The enzymes:, 17, 396, 459, Academic Press, Orlando

2. Molecular basis of signal integration in phosphorylase kinase

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

4. 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.

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4. Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2/ mouse model;Molecular Genetics and Metabolism;2021-07

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