Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13 (Q24678184)

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B T Darras

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N F Zander

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M W Kilimann

American Journal of Human Genetics

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language of work or name

English

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publication date

August 1989

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published in

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volume

45

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issue

2

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page(s)

276-82

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The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14

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Cloning of Human Androgen Receptor Complementary DNA and Localization to the X Chromosome

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The myelin-associated glycoprotein gene: mapping to human chromosome 19 and mouse chromosome 7 and expression in quivering mice

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

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Glycogen-storage disease associated with phosphorylase kinase deficiency: evidence for X inactivation

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Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome

28 September 2017

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Assignment of the TIMP gene to the murine X-chromosome using an inter-species cross

28 September 2017

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

28 September 2017

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

28 September 2017

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Genes for synapsin I, a neuronal phosphoprotein, map to conserved regions of human and murine X chromosomes

28 September 2017

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The pronatriodilatin gene is located on the distal short arm of human chromosome 1 and on mouse chromosome 4

28 September 2017

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Localization of the mdx mutation within the mouse dystrophin gene

28 September 2017

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Molecular analysis of human and rat calmodulin complementary DNA clones. Evidence for additional active genes in these species.

28 September 2017

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Biochemical and genetic exclusion of calmodulin as the site of the basic defect in cystic fibrosis.

28 September 2017

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

28 September 2017

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Cytological identification of the chromosomes involved in Searle's translocation and the location of the centromere in the X chromosome of the mouse

30 May 2018

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

30 May 2018

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The molecular basis of skeletal muscle phosphorylase kinase deficiency

30 May 2018

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A new type of glycogen storage disease caused by deficiency of cardiac phosphorylase kinase

30 May 2018

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Localization of single copy DNA sequences of G-banded human chromosomes by in situ hybridization

28 November 2018

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12 December 2020

Glycogenosis due to liver and muscle phosphorylase kinase deficiency

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Phosphorylase kinase deficiency

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Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus

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

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The human tyrosine aminotransferase gene mapped to the long arm of chromosome 16 (region 16q22?q24) by somatic cell hybrid analysis and in situ hybridization

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Chromosomal mapping of genes involved in growth control

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Chromosomal assignment of the gene encoding the human tissue inhibitor of metalloproteinases to Xp11.1-p11.4.

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Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency

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Structural changes in glycogen phosphorylase induced by phosphorylation

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Localization of the human X-linked gene for chronic granulomatous disease to the mouse X chromosome: implications for X-chromosome evolution

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

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Phosphorylase b kinase inheritance in mice

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12 December 2020