Article
Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB).
American journal of human genetics - 1 Sept 1997
van den Berg I E, van Beurden E A, de Klerk J B, van Diggelen O P, Malingré H E, Boer M M, Berger R
Abstract excerpt
The association of autosomal recessive phosphorylase kinase deficiency in liver of a 3 1/2-year-old female child with mutations in the gene encoding the common part of the beta subunit of phosphorylase kinase is reported. The proband had a severe deficiency of phosphorylase kinase in liver, while the phosphorylase kinase activity in erythrocytes was only slightly diminished. She had no symptoms of muscle...
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