uu.seUppsala University Publications
Change search
ReferencesLink to record
Permanent link

Direct link
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
Show others and affiliations
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
Place, publisher, year, edition, pages
The American Society of Human Genetics , 2005. Vol. 76, no 6, 1034-1049 p.
National Category
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: 2010-07-21Bibliographically approved

Open Access in DiVA

No full text

Search in DiVA

By author/editor
Kilimann, Manfred W.
By organisation
Department of Cell and Molecular Biology
In the same journal
American Journal of Human Genetics

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Total: 150 hits
ReferencesLink to record
Permanent link

Direct link