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

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)453-461
JournalClinical Genetics
Volume81
Issue number5
DOIs
Publication statusPublished - May 2012

Keywords

  • mild phenotype
  • missense mutation
  • TSC2
  • tuberous sclerosis complex

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