Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study

M.M.M. Verhagen, J.I. Last, F.B.L. Hogervorst, D.F.C.M. Smeets, N. Roeleveld, F. Verheijen, C.E. Catsman-Berrevoets, NM Wulffraat, J.M. Cobben, J. Hiel, E.R. Brunt, E.A.J. Peeters, E.B.G. Garcia, M.S. van der Knaap, C.R. Lincke, L.A.E.M. Laan, M.A.J. Tijssen, M.A. van Rijn, D. Majoor-Krakauer, M. VisserL.J. van 't Veer, W.J. Kleijer, B.P.C. van de Warrenburg, A. Warris, I.J.M. de Groot, R. de Groot, A. Broeks, F. Preijers, B.H.P.H. Kremer, C.M.R. Weemaes, M.A.M.R. Taylor, M. van Deuren, M.A.A.P. Willemsen

Research output: Contribution to journalArticleAcademicpeer-review

Original languageUndefined/Unknown
Pages (from-to)561-571
JournalHuman Mutation
Volume33
Issue number3
DOIs
Publication statusPublished - 2012

Cite this

Verhagen, M. M. M., Last, J. I., Hogervorst, F. B. L., Smeets, D. F. C. M., Roeleveld, N., Verheijen, F., ... Willemsen, M. A. A. P. (2012). Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study. Human Mutation, 33(3), 561-571. https://doi.org/10.1002/humu.22016