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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
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2005 (English)In: American Journal of Human Genetics, ISSN 0002-9297, E-ISSN 1537-6605, Vol. 76, no 6, 1034-1049 p.Article in journal (Refereed) Published
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The American Society of Human Genetics , 2005. Vol. 76, no 6, 1034-1049 p.
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Genetics
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URN: urn:nbn:se:uu:diva-77777OAI: oai:DiVA.org:uu-77777DiVA: diva2:105689
Available from: 2006-03-15 Created: 2006-03-15 Last updated: 2017-12-14Bibliographically approved

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Kilimann, Manfred W.

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