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

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

doi:10.1002/humu.22016

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

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

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	561-571
Number of pages	10
Journal	Human Mutation
Volume	33
Issue number	3
DOIs	https://doi.org/10.1002/humu.22016
Publication status	Published - 2012

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Verhagen, M. M., Last, J. I., Hogervorst, F. B., Smeets, DF., Roeleveld, N., Verheijen, F., Catsman-Berrevoets, C. E., Wulffraat, N. M., Cobben, J. M., Hiel, J., Brunt, E. R., Peeters, E. A., Gomez Garcia, E. B., van der Knaap, M. S., Lincke, C. R., Laan, L. A., Tijssen, M. A., van Rijn, M. A., Majoor-Krakauer, D., ... Willemsen, M. A. (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

@article{7649ad01e912406e8528bc4e3e1a7312,

title = "Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study",

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

year = "2012",

doi = "10.1002/humu.22016",

language = "English",

volume = "33",

pages = "561--571",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "John Wiley \& Sons Inc.",

number = "3",

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Verhagen, MM, Last, JI, Hogervorst, FB, Smeets, DF, Roeleveld, N, Verheijen, F, Catsman-Berrevoets, CE, Wulffraat, NM, Cobben, JM, Hiel, J, Brunt, ER, Peeters, EA, Gomez Garcia, EB, van der Knaap, MS, Lincke, CR, Laan, LA, Tijssen, MA, van Rijn, MA, Majoor-Krakauer, D, Visser, M, van 't Veer, LJ, Kleijer, WJ, Warrenburg, BP, Warris, A, de Groot, IJ, de Groot, R, Broeks, A, Preijers, F, Kremer, BH, Weemaes, CMR, Taylor, MA, van Deuren, M & Willemsen, MA 2012, 'Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study', Human Mutation, vol. 33, no. 3, pp. 561-571. https://doi.org/10.1002/humu.22016

TY - JOUR

T1 - Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study

AU - Verhagen, M.M.

AU - Last, J.I.

AU - Hogervorst, F.B.

AU - Smeets, DF

AU - Roeleveld, N.

AU - Verheijen, F.

AU - Catsman-Berrevoets, C.E.

AU - Wulffraat, N.M.

AU - Cobben, J.M.

AU - Hiel, J.

AU - Brunt, E.R.

AU - Peeters, E.A.

AU - Gomez Garcia, E.B.

AU - van der Knaap, M.S.

AU - Lincke, C.R.

AU - Laan, L.A.

AU - Tijssen, M.A.

AU - van Rijn, M.A.

AU - Majoor-Krakauer, D.

AU - Visser, M

AU - van 't Veer, L.J.

AU - Kleijer, W.J.

AU - Warrenburg, B.P.

AU - Warris, A.

AU - de Groot, I.J.

AU - de Groot, R.

AU - Broeks, A.

AU - Preijers, F.

AU - Kremer, B.H.

AU - Weemaes, C.M.R.

AU - Taylor, M.A.

AU - van Deuren, M.

AU - Willemsen, M.A.

PY - 2012

Y1 - 2012

U2 - 10.1002/humu.22016

DO - 10.1002/humu.22016

M3 - Article

C2 - 22213089

SN - 1059-7794

VL - 33

SP - 561

EP - 571

JO - Human Mutation

JF - Human Mutation

IS - 3

ER -