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

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)28-30
JournalEuropean Journal of Medical Genetics
Volume58
Issue number1
DOIs
Publication statusPublished - Jan 2015

Keywords

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

Cite this

Semaka, A., Kay, C., Belfroid, R. D. M., Bijlsma, E. K., Losekoot, M., van Langen, I. M., van Maarle, M. C., Oosterloo, M., Hayden, M. R., & van Belzen, M. J. (2015). A new mutation for Huntington disease following maternal transmission of an intermediate allele. European Journal of Medical Genetics, 58(1), 28-30. https://doi.org/10.1016/j.ejmg.2014.11.005