A new mutation for Huntington disease following maternal transmission of an intermediate allele

Alicia Semaka, Chris Kay, Rene D. M. Belfroid, Emilia K. Bijlsma, Monique Losekoot, Irene M. van Langen, Merel C. van Maarle, Mayke Oosterloo, Michael R. Hayden, Martine J. van Belzen*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

10 Citations (Web of Science)
Original languageEnglish
Pages (from-to)28-30
JournalEuropean Journal of Medical Genetics
Issue number1
Publication statusPublished - Jan 2015


  • Huntington disease
  • Intermediate allele
  • New mutation
  • Maternal CAG repeat expansion
  • HTT gene

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