Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB).

Lignende værker

• X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.
  af: van den Berg, I E, et al.
  Udgivet: (1995)
• Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.
  af: McLaughlin, M E, et al.
  Udgivet: (1995)
• Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13.
  af: Francke, U, et al.
  Udgivet: (1989)
• Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.
  af: Dryja, T P, et al.
  Udgivet: (1995)
• KIAA1199 interacts with glycogen phosphorylase kinase β-subunit (PHKB) to promote glycogen breakdown and cancer cell survival
  af: Terashima, Masato, et al.
  Udgivet: (2014)