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

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

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