Detection and a functional characterization of the novel FBN1 intronic mutation underlying Marfan syndrome: Case presentation

Ewa Wypasek, Daniel P. Potaczek, Marcin Hydzik, Renata Stapor, Marta Raczkowska-Muraszko, Janneke Weiss, Alessandra Maugeri, Anetta Undas

Research output: Contribution to journalComment/Letter to the editorAcademic

3 Citations (Scopus)
Original languageEnglish
Pages (from-to)e87-e91
JournalClinical chemistry and laboratory medicine
Issue number4
Publication statusPublished - 28 Mar 2018


  • (frameshift) mutation
  • FBN1
  • Marfan syndrome (MFS)
  • fibrillin-1
  • splicing

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