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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Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis

By Burwinkel B.  

Human Molecular Genetics, Vol. 7, Iss. 1, 1998-01 ,pp. : 149-154

Oxford University Press

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An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity

By Takano Kyoko   Liu Dan   Tarpey Patrick   Gallant Esther   Lam Alex   Witham Shawn   Alexov Emil   Chaubey Alka   Stevenson Roger E.   Schwartz Charles E.   Board Philip G.   Dulhunty Angela F.  

Human Molecular Genetics, Vol. 21, Iss. 20, 2012-10 ,pp. : 4497-4507

Oxford University Press

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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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Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability

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Molecular Syndromology, Vol. 2, Iss. 2, 2011-12 ,pp. : 60-63

Karger

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