Concepedia

Identification of three novel mutations in the PHKA2 gene in Czech patients with X‐linked liver glycogenosis

J. Rudolfová, Romana Slováčková, Martin Trbušek, Karolína Pešková, Sylvie Šťastná, Libor Kozák

Journal of Inherited Metabolic Disease · 2001 · 13 citations · 5 references

DOI

Concepts

References

5

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.

Jutta Davidson, C Hamacher, P J Willems et al. · Proceedings of the National Academy of Sciences · 1992 · 94 citations

, , +12

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

Norbert Zander, Helmut E. Meyer, Edeltraut Hoffmann-Posorske et al. · Proceedings of the National Academy of Sciences · 1988 · 86 citations · Full text

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

Uta Francke, Basil T. Darras, Norbert Zander et al. · PubMed · 1989 · 63 citations

, , +5

Complete Genomic Structure and Mutational Spectrum of PHKA2 in Patients with X-Linked Liver Glycogenosis Type I and II

Jan Hendrickx, Philip Lee, James Keating et al. · The American Journal of Human Genetics · 1999 · 54 citations · Full text

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Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22

P J Willems, Jan Hendrickx, Bart Van Der Auwera et al. · Genomics · 1991 · 20 citations

, , +14