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

*Corresponding author for this work

Research output: Contribution to journalComment/Letter to the editorAcademic

Original languageEnglish
Pages (from-to)e87-e91
JournalClinical Chemistry and Laboratory Medicine
Volume56
Issue number4
DOIs
Publication statusPublished - 28 Mar 2018

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