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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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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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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A new locus for X-linked dominant Charcot–Marie–Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 ( PDK3 ) gene

By Kennerson Marina L.   Yiu Eppie M.   Chuang David T.   Kidambi Aditi   Tso Shih-Chia   Ly Carolyn   Chaudhry Rabia   Drew Alexander P.   Rance Gary   Delatycki Martin B.   Züchner Stephan   Ryan Monique M.   Nicholson Garth A.  

Human Molecular Genetics, Vol. 22, Iss. 7, 2013-04 ,pp. : 1404-1416

Oxford University Press

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Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein

By Schwahn U.   Paland N.   Techritz S.   Lenzner S.   Berger W.  

Human Molecular Genetics, Vol. 10, Iss. 11, 2001-05 ,pp. : 1177-1183

Oxford University Press

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