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

Clin Chem Lab Med. 2018 Mar 28;56(4):87-91. doi: 10.1515/cclm-2017-0042.

Ewa Wypasek^{1

2}, Daniel P Potaczek^{2

3}, Marcin Hydzik², Renata Stapor⁴, Marta Raczkowska-Muraszko⁵, Janneke Weiss⁶, Alessandra Maugeri⁶, Anetta Undas^{2

4}

¹ Institute of Cardiology, Jagiellonian University School of Medicine, 80 Pradnicka St., 31-202 Cracow, Poland.
² The John Paul II Hospital, Cracow, Poland.
³ Institute of Laboratory Medicine and Pathobiochemistry, Molecular Diagnostics, Philipps-Universität Marburg, Marburg, Germany.
⁴ Institute of Cardiology, Jagiellonian University Medical College, Cracow, Poland.
⁵ First Department of Surgery, Jagiellonian University Medical College, Cracow, Poland.
⁶ Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

No abstract available

Keywords: (frameshift) mutation; FBN1; Marfan syndrome (MFS); fibrillin-1; splicing.

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