Phosphorylase kinase deficiency
Copyright policy )Phosphorylase kinase deficiency
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.
- Miami University United States
- Jackson Laboratory United States
- University System of Ohio United States
Male, Heterozygote, Phosphorylase Kinase, Strains: C57BL, Biochemistry, K(Phk), Mice, Metabolism:, Leukocytes, Animals, Humans, Pathology:, Molecular Biology, Blood Cells, Sex Chromosomes, Adenine Nucleotides, Muscles, Genes: Phk=K - Phosphorylase kinase, I, Organs:, Pedigree, Liver, Female, Glycogen, Metabolism, Inborn Errors
Male, Heterozygote, Phosphorylase Kinase, Strains: C57BL, Biochemistry, K(Phk), Mice, Metabolism:, Leukocytes, Animals, Humans, Pathology:, Molecular Biology, Blood Cells, Sex Chromosomes, Adenine Nucleotides, Muscles, Genes: Phk=K - Phosphorylase kinase, I, Organs:, Pedigree, Liver, Female, Glycogen, Metabolism, Inborn Errors
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