Protein kinase-A activity in PRKAR1A -mutant cells, and regulation of mitogen-activated protein kinases ERK1/2

By Robinson-White A.  

Human Molecular Genetics, Vol. 12, Iss. 13, 2003-07 ,pp. : 1475-1484

Oxford University Press

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Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors

By Anastasaki Corina   Estep Anne L.   Marais Richard   Rauen Katherine A.   Patton E. Elizabeth  

Human Molecular Genetics, Vol. 18, Iss. 14, 2009-07 ,pp. : 2543-2554

Oxford University Press

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Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis

By Houten S. M.  

Human Molecular Genetics, Vol. 8, Iss. 8, 1999-08 ,pp. : 1523-1528

Oxford University Press

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Allele-specific silencing of a pathogenic mutant acetylcholine receptor subunit by RNA interference

By Abdelgany Amr  

Human Molecular Genetics, Vol. 12, Iss. 20, 2003-10 ,pp. : 2637-2644

Oxford University Press

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Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders

By Greenhalgh D.  

Human Molecular Genetics, Vol. 12, Iss. 14, 2003-07 ,pp. : 1737-1744

Oxford University Press

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