Fatal Congenital Heart Glycogenosis Caused by a Recurrent Activating R531Q Mutation in the γ2-Subunit of AMP-Activated Protein Kinase (PRKAG2), Not by Phosphorylase Kinase Deficiency
The American Journal of Human Genetics2005Vol. 76(6), pp. 1034–1049
Citations Over TimeTop 10% of 2005 papers
Barbara Burwinkel, John W. Scott, Christoph Bührer, Frank K.H. van Landeghem, Gerald F. Cox, Callum Wilson, D. Grahame Hardie, Manfred W. Kilimann
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