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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Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice

By Mounkes Leslie C.  

Human Molecular Genetics, Vol. 14, Iss. 15, 2005-08 ,pp. : 2167-2180

Oxford University Press

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A-type lamins are essential for TGF-1 induced PP2A to dephosphorylate transcription factors

By Van Berlo J.H.  

Human Molecular Genetics, Vol. 14, Iss. 19, 2005-10 ,pp. : 2839-2849

Oxford University Press

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Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy

By Matsushita Yoshihisa   Furukawa Toru   Kasanuki Hiroshi   Nishibatake Makoto   Kurihara Yachiyo   Ikeda Atsushi   Kamatani Naoyuki   Takeshima Hiroshi   Matsuoka Rumiko  

Journal of Human Genetics, Vol. 52, Iss. 6, 2007-06 ,pp. : 543-548

Springer Publishing Company

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Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel

By Sun Mei  

Human Molecular Genetics, Vol. 9, Iss. 17, 2000-10 ,pp. : 2471-2478

Oxford University Press

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