De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability

Servi J. C. Stevens*, Vyne van der Schoot, Magalie S. Leduc, Tuula Rinne, Seema R. Lalani, Marjan M. Weiss, Johanna M. van Hagen, Augusta M. A. Lachmeijer, Sylvia G. Stockler-Ipsiroglu, Anna Lehman, Han G. Brunner, CAUSES Study

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1014-1023
Number of pages10
JournalHuman Mutation
Volume39
Issue number7
DOIs
Publication statusPublished - 1 Jul 2018

Keywords

  • chromatin remodeling
  • de novo mutation
  • exome sequencing
  • intellectual disability
  • SET nuclear proto-oncogene
  • PROTEIN SET
  • ONCOPROTEIN
  • BETA
  • DNA
  • DEMETHYLATION
  • TRANSCRIPTION
  • LOCALIZATION
  • DISORDERS
  • MIGRATION
  • CHAPERONE

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