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variant wild-type tsc 1 tsc 1 analysis chromosome wild-type tsc 1 variants mutation patient phosphorylation tsc 2 gene change tsc 2 sclerosis tuberou translocation genet tuberous sclerosis tsc 1à/à mefs 6 phosphorylation region genetic pkd 1 gene figure probe expression signal r 692x variants deletion disease proband tsc 1 function european journal nellist breakpoint family missense 13.3 tsc 1 gene parent m 224r variants child .913g substitution index c .913g antibody european kidney fraction polycystic syndrome index patient amino-acid tsc 1-dependent inhibition 8 q 24.3 1097h r 1097h variants experiment journal myc epitope tag individual 16 p 13.3 father article figure 5 lesion protein function mutation analysis transfected l 117p level effect pkd 1 genes n 198f variants university van den ouweland inhibition department
2 Most Recent Publications
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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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An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito
(Article)
Eussen, B.H.J. Verhoef, S. Ouweland, A.M.W. van den Ris-Stalpers, C. Fois, A. Halley, D.J.J. Bartalini, G. Bakker, L. Balestri, P. Lucca, C. di Hemel, J.O. van Dauwerse, H. |
2000-01-01
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