Phosphorylase kinase deficiency

Frans Huijing

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


Phosphorylase kinase deficiency in I strain mice and in humans both show X-chromosomal inheritance. Neither deficient adult humans nor deficient mice show any sign of disease. Thus the two conditions resemble each other. However, there are differences. The enzyme is only partially deficient in human patients in liver, muscle, and blood cells; in mice the deficiency is complete and seems to be confined to the muscles.

Original languageEnglish (US)
Pages (from-to)187-194
Number of pages8
JournalBiochemical Genetics
Issue number1
StatePublished - Feb 1 1970

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Biochemistry
  • Molecular Biology
  • Genetics


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