An FBN1 Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases?

Elisabeth Gillis, Marlies Kempers, Simone Salemink, Janneke Timmermans, Emile C. Cheriex, Sebastiaan C. A. M. Bekkers, Erik Fransen, Christine E. M. De Die-Smulders, Bart L. Loeys, Lut Van Laer

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)571-574
JournalHuman Mutation
Volume35
Issue number5
DOIs
Publication statusPublished - May 2014

Keywords

  • Marfan syndrome
  • deep intronic mutation
  • FBN1
  • pseudo-exon

Cite this

Gillis, E., Kempers, M., Salemink, S., Timmermans, J., Cheriex, E. C., Bekkers, S. C. A. M., Fransen, E., De Die-Smulders, C. E. M., Loeys, B. L., & Van Laer, L. (2014). An FBN1 Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases? Human Mutation, 35(5), 571-574. https://doi.org/10.1002/humu.22540