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References

These sources were used to develop the Genetics Home Reference gene summary on the PHKB gene.

Brushia RJ, Walsh DA. Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure. Front Biosci. 1999 Sep 15;4:D618-41. Review. PubMed citation
Burwinkel B, Maichele AJ, Aagenaes O, Bakker HD, Lerner A, Shin YS, Strachan JA, Kilimann MW. Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). Hum Mol Genet. 1997 Jul;6(7):1109-15. PubMed citation
Entrez Gene
OMIM: PHOSPHORYLASE KINASE, BETA SUBUNIT
van den Berg IE, van Beurden EA, de Klerk JB, van Diggelen OP, Malingré HE, Boer MM, Berger R. Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB). Am J Hum Genet. 1997 Sep;61(3):539-46. PubMed citation

Reviewed: September 2012

Published: May 20, 2013