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variant tsc 1 wild-type tsc 1 variants wild-type tsc 1 tsc 2 variants mutation tsc 2 change signal wild-type tsc 1–tsc analysis nellist phosphorylation sclerosis tuberou 1–tsc tuberous sclerosis figure substitution tsc 2 gene t 389/s ratio ratio assessment protein genetic expression tsc 2 lovd genet tsc 1à/à mefs van den ouweland nellist m individual 6 phosphorylation missense function department 389/ effect t 389/s ratios r 692x variants patient experiment activity assay tsc 2 signal tsc 1 function european journal prediction chromosome level acid substitutions splice-site family university m 224r variants tsc 2 genes region child tsc 1 gene table .913g control halley study tsc 1–tsc wild-type control c .913g ouweland antibody transfection european fraction goedbloed 1097h t 389-phosphorylated presence 6k signals journal myc epitope tag
2 Most Recent Publications
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Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex
(Article)
Hoogeveen-Westerveld, M. Wentink, M. Bergoffen, J. Shashi, V. Elmslie, F. Kwiatkowski, D. Sampson, J. Vidales, C. Dzarir, J. Garcia-Planells, J. Dies, K. Maat-Kievit, A.A. Heuvel, D. van den Ouweland, A.M.W. van den Halley, D.J.J. Nellist, M. Mozaffari, E. Ekong, R. Povey, S. Dunnen, J.T. den Metcalfe, K. Vallee, S. Krueger, S. |
2011-04-01
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Missense mutations to the TSC1 gene cause tuberous sclerosis complex
(Article)
Nellist, M. Heuvel, D. van den Bartalini, G. Vierimaa, O. Penttinen, M. Ende, J. van den Ouweland, A.M.W. van den Halley, D. Schluep, D. Exalto, C. Goedbloed, M.A. Maat-Kievit, A.A. Essen, T. van Spaendonck-Zwarts, K.Y. van Jansen, F. Helderman, P. |
2009-01-01
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