Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II (Q24540054)

1

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P Lee

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J P Keating

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D Carton

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I B Sardharwalla

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M Tuchman

6

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C Baussan

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P J Willems

American Journal of Human Genetics

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language of work or name

English

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publication date

June 1999

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published in

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volume

64

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issue

6

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page(s)

1541-9

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cites work

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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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Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene

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X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase

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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

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27 September 2017

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

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

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

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12 December 2020

Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2)

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12 December 2020

Calmodulin as an integral subunit of phosphorylase kinase from rabbit skeletal muscle

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12 December 2020

[The glucagon problem in glycogenosis]

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12 December 2020

X-linked glycogen storage disease. A cause of hypotonia, hyperuricemia, and growth retardation

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12 December 2020

Clinical and laboratory observations in a child with hepatic phosphorylase kinase deficiency

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12 December 2020

Biochemical diagnosis of hepatic glycogen storage diseases: 20 years French experience

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12 December 2020

Identifiers

DOI

10.1086/302399

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1 reference

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PubMed publication ID

10330341

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