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Title: Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases
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European Journal of Human Genetics [1018-4813] Burwinkel, Barbara yr:2003


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1. DiMauro, S. "A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy." Biochemical and biophysical research communications 249.3 (1998): 648-51. Link to Full Text for this item Link to SFX for this item
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