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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Mfrp , a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6

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Human Molecular Genetics, Vol. 11, Iss. 16, 2002-08 ,pp. : 1879-1886

Oxford University Press

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A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)

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Human Molecular Genetics, Vol. 8, Iss. 2, 1999-02 ,pp. : 345-352

Oxford University Press

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Ferrochelatase consisting of wild-type and mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria, is an active but unstable dimer

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Human Molecular Genetics, Vol. 14, Iss. 2, 2005-01 ,pp. : 327-334

Oxford University Press

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NF2 gene in neurofibromatosis type 2 patients

By Giraud S.  

Human Molecular Genetics, Vol. 7, Iss. 13, 1998-12 ,pp. : 2095-2101

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