Phosphorylase kinase deficiency
| Autor: | Huijing, Frans |
|---|---|
| Zdroj: | Biochemical Genetics; February 1970, Vol. 4 Issue: 1 p187-194, 8p |
| Abstrakt: | 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. |
| Databáze: | Supplemental Index |
| Externí odkaz: |
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