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Wehner, M., Clemens, P.R., Engel, A.G. and Kilimann, M.W. (1994) Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. Human Molecular Genetics, 3, 1983-1987. doi:10.1093/hmg/3.11.1983

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