Autosomal Glycogenosis of Liver and Muscle Due to Phosphorylase Kinase Deficiency is Caused by Mutations in the Phosphorylase Kinase β Subunit ( PHKB )

By Burwinkel Barbara  

Human Molecular Genetics, Vol. 6, Iss. 7, 1997-01 ,pp. : 1109-1115

Oxford University Press

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X-Linked Liver Glycogenosis Type II (XLg II) Is Caused by Mutations in PHKA2 , the Gene Encoding the Liver α Subunit of Phosphorylase Kinase

By Hendrickx Jan   Dams Erna   Coucke Paul   Lee Philip   Fernandes John   Willems Patrick J.  

Human Molecular Genetics, Vol. 5, Iss. 5, 1996-01 ,pp. : 649-652

Oxford University Press

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Mutation Hotspots in the PHKA2 G Gene in X-Linked Liver Glycogenosis Due to Phosphorylase Kinase Deficienc with Atypical Activity in Blood Cells (XLG2)

By Burwinkel Barbara   Shin Yoon S.   Bakker Henk D.   Deutsch Johann   José Lozano María   Maire Irène   Kilimann Manfred W.  

Human Molecular Genetics, Vol. 5, Iss. 5, 1996-01 ,pp. : 653-658

Oxford University Press

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The bovine α-glucosidase gene: coding region, genomic structure, and mutations that cause bovine generalized glycogenosis

By Dennis Julie A.   Moran Christopher   Healy Peter J.  

Mammalian Genome, Vol. 11, Iss. 3, 2000-03 ,pp. : 206-212

Springer Publishing Company

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Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency

By Jaksch Michaela  

Human Molecular Genetics, Vol. 9, Iss. 5, 2000-03 ,pp. : 795-801

Oxford University Press

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