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DNA-based subtyping of glycogen storage disease type III: mutation and haplotype analysis of the AGL gene in Chinese.
Mol Genet Metab. 2004 Nov;83(3):271-5. doi: 10.1016/j.ymgme.2004.07.017.
Mol Genet Metab. 2004.
PMID: 15542399
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.
Burwinkel B, Scott JW, Bührer C, van Landeghem FK, Cox GF, Wilson CJ, Grahame Hardie D, Kilimann MW.
Burwinkel B, et al.
Am J Hum Genet. 2005 Jun;76(6):1034-49. doi: 10.1086/430840. Epub 2005 May 2.
Am J Hum Genet. 2005.
PMID: 15877279
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