Functional characterization of the TSC2 c.3598C > T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds

M. Wentink; M. Nellist; M. Hoogeveen-Westerveld; B. Zonnenberg; Dorina M. van der Kolk; Ton van Essen; S-M Park; C. Geoffrey Woods; Petra E. Cohn-Hokke; W. Brussel; E. Smeets; Anthony Brooks; Dicky J. J. Halley; Ans M. W. van den Ouweland; J. A. Maat-Kievit

doi:10.1111/j.1399-0004.2011.01648.x

Functional characterization of the TSC2 c.3598C > T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds

M. Wentink, M. Nellist, M. Hoogeveen-Westerveld, B. Zonnenberg, Dorina M. van der Kolk, Ton van Essen, S-M Park, C. Geoffrey Woods, Petra E. Cohn-Hokke, W. Brussel, E. Smeets, Anthony Brooks, Dicky J. J. Halley, Ans M. W. van den Ouweland, J. A. Maat-Kievit^*

^*Corresponding author for this work

GROW School for Oncology and Developmental Biology

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

Original language	English
Pages (from-to)	453-461
Journal	Clinical Genetics
Volume	81
Issue number	5
DOIs	https://doi.org/10.1111/j.1399-0004.2011.01648.x
Publication status	Published - May 2012

Keywords

mild phenotype
missense mutation
TSC2
tuberous sclerosis complex

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10.1111/j.1399-0004.2011.01648.x

Cite this

Wentink, M., Nellist, M., Hoogeveen-Westerveld, M., Zonnenberg, B., van der Kolk, D. M., van Essen, T., Park, S-M., Woods, C. G., Cohn-Hokke, P. E., Brussel, W., Smeets, E., Brooks, A., Halley, D. J. J., van den Ouweland, A. M. W., & Maat-Kievit, J. A. (2012). Functional characterization of the TSC2 c.3598C > T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds. Clinical Genetics, 81(5), 453-461. https://doi.org/10.1111/j.1399-0004.2011.01648.x

Wentink, M. ; Nellist, M. ; Hoogeveen-Westerveld, M. ; Zonnenberg, B. ; van der Kolk, Dorina M. ; van Essen, Ton ; Park, S-M ; Woods, C. Geoffrey ; Cohn-Hokke, Petra E. ; Brussel, W. ; Smeets, E. ; Brooks, Anthony ; Halley, Dicky J. J. ; van den Ouweland, Ans M. W. ; Maat-Kievit, J. A. / Functional characterization of the TSC2 c.3598C > T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds. In: Clinical Genetics. 2012 ; Vol. 81, No. 5. pp. 453-461.

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title = "Functional characterization of the TSC2 c.3598C > T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds",

keywords = "mild phenotype, missense mutation, TSC2, tuberous sclerosis complex",

author = "M. Wentink and M. Nellist and M. Hoogeveen-Westerveld and B. Zonnenberg and {van der Kolk}, {Dorina M.} and {van Essen}, Ton and S-M Park and Woods, {C. Geoffrey} and Cohn-Hokke, {Petra E.} and W. Brussel and E. Smeets and Anthony Brooks and Halley, {Dicky J. J.} and {van den Ouweland}, {Ans M. W.} and Maat-Kievit, {J. A.}",

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doi = "10.1111/j.1399-0004.2011.01648.x",

language = "English",

volume = "81",

pages = "453--461",

journal = "Clinical Genetics",

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Wentink, M, Nellist, M, Hoogeveen-Westerveld, M, Zonnenberg, B, van der Kolk, DM, van Essen, T, Park, S-M, Woods, CG, Cohn-Hokke, PE, Brussel, W, Smeets, E, Brooks, A, Halley, DJJ, van den Ouweland, AMW & Maat-Kievit, JA 2012, 'Functional characterization of the TSC2 c.3598C > T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds', Clinical Genetics, vol. 81, no. 5, pp. 453-461. https://doi.org/10.1111/j.1399-0004.2011.01648.x

Functional characterization of the TSC2 c.3598C > T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds. / Wentink, M.; Nellist, M.; Hoogeveen-Westerveld, M.; Zonnenberg, B.; van der Kolk, Dorina M.; van Essen, Ton; Park, S-M; Woods, C. Geoffrey; Cohn-Hokke, Petra E.; Brussel, W.; Smeets, E.; Brooks, Anthony; Halley, Dicky J. J.; van den Ouweland, Ans M. W.; Maat-Kievit, J. A.

In: Clinical Genetics, Vol. 81, No. 5, 05.2012, p. 453-461.

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

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AU - Hoogeveen-Westerveld, M.

AU - Zonnenberg, B.

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AU - Cohn-Hokke, Petra E.

AU - Brussel, W.

AU - Smeets, E.

AU - Brooks, Anthony

AU - Halley, Dicky J. J.

AU - van den Ouweland, Ans M. W.

AU - Maat-Kievit, J. A.

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