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

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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