reference/27456260

http://rdf.ncbi.nlm.nih.gov/pubchem/reference/27456260

Outgoing Links

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contentType	Case Reports\|Journal Article\|Research Support, N.I.H., Extramural\|Research Support, Non-U.S. Gov't\|Research Support, U.S. Gov't, P.H.S.
endingPage	1049
issn	0002-9297
issueIdentifier	6
pageRange	1034-1049
publicationName	The American Journal of Human Genetics
startingPage	1034
hasFundingAgency	http://rdf.ncbi.nlm.nih.gov/pubchem/organization/MD5_e423e98d115894f5b30465dcb1113e0c http://rdf.ncbi.nlm.nih.gov/pubchem/organization/MD5_e4b7799b7b1f11aa93c9c8c1592f6892
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bibliographicCitation	Burwinkel B, Scott JW, Bührer C, van Landeghem FKH, Cox GF, Wilson CJ, Grahame Hardie D, Kilimann MW. 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 Genetics. 2005 Jun;76(6):1034–49. doi: 10.1086/430840.
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date	200506
identifier	https://pubmed.ncbi.nlm.nih.gov/PMC1196441 https://doi.org/10.1086/430840 https://pubmed.ncbi.nlm.nih.gov/15877279
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language	English
source	https://www.crossref.org/ https://pubmed.ncbi.nlm.nih.gov/
title	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
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