Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder

Kim D. Falkenberg, Nancy E. Braverman, Ann B. Moser, Steven J. Steinberg, Femke C. C. Klouwer, Agatha Schluter, Montserrat Ruiz, Aurora Pujol, Martin Engvall, Karin Naess, FrancJan van Spronsen, Irene Korver-Keularts, M. Estela Rubio-Gozalbo, Sacha Ferdinandusse, Ronald J. A. Wanders, Hans R. Waterham*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)965-976
Number of pages12
JournalAmerican Journal of Human Genetics
Volume101
Issue number6
DOIs
Publication statusPublished - 7 Dec 2017

Keywords

  • PEROXISOME BIOGENESIS DISORDERS
  • ALTERNATIVE CLEAVAGE
  • GENE-EXPRESSION
  • MUTATIONS
  • AAA
  • POLYADENYLATION
  • TRANSCRIPTION
  • FIBROBLASTS
  • METABOLISM
  • VARIANTS

Cite this

Falkenberg, K. D., Braverman, N. E., Moser, A. B., Steinberg, S. J., Klouwer, F. C. C., Schluter, A., Ruiz, M., Pujol, A., Engvall, M., Naess, K., van Spronsen, F., Korver-Keularts, I., Rubio-Gozalbo, M. E., Ferdinandusse, S., Wanders, R. J. A., & Waterham, H. R. (2017). Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. American Journal of Human Genetics, 101(6), 965-976. https://doi.org/10.1016/j.ajhg.2017.11.007