Phosphorylase kinase deficiency in I–strain mice is associated with a frameshift mutation in the α subunit muscle isoform

Author:

Schneider Angela,Davidson Jutta J.,Wüllrich Andrea,Kilimann Manfred W.

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Reference37 articles.

1. Picket-Gies, C.R. & Walsh, D.A. Phosphorylase kinase. In The Enzymes 17 (eds Boyer, P.O. & Krebs, E.G.) 395–459 (Academic Press, Orlando, 1986).

2. Huijing, F. & Fernandes, J. X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency. Am. J. hum. Genet. 21, 275–284 (1969).

3. Schimke, R.N., Zakheim, R.M., Corder, R.C. & Hug, G. Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency. J. Pediatr. 83, 1031–1034 (1973).

4. De Bruijn, W.C., Fernandes, J.F., Huber, J. & Coster, J.F. Liver glycogenosis. A biochemical and ultrastructural study. Path. Eur. 10, 3–15 (1975).

5. Lederer, B., Van Hoof, F., Van Den Berghe, G. & Hers, H.G. Glycogen phosphorylase and its converter enzymes in hemolysates of normal human subjects and of patients with type VI glycogen storage disease. A study of phosphorylase kinase deficiency. Biochem. J. 147, 23–35 (1975).

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