(Q24301469)
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Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency (English)
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Christoph Bührer
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Frank K H van Landeghem
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Gerald F Cox
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Callum J Wilson
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D Grahame Hardie
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Manfred W Kilimann
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